NCIt Code NCIt PT Subset PT Subset SY NCIt Definition Subset Definition NCIt Code of First Parent First Parent NCIt Code of Second Parent Second Parent NCIt Code of Subset PT of NICHD Subset Subset Antiquated PT Subset Antiquated SY C5448 Malignant Childhood Central Nervous System Neoplasm Malignant Childhood Central Nervous System Neoplasm Malignant neoplasms which occur in the brain, spinal cord, or meninges of children. Brainstem gliomas, medulloblastomas, ependymomas, and certain pineal tumors are relatively common primary malignant tumors of the CNS in children. A malignant neoplasm of the brain, spinal cord, or meninges occurring in children. C5132 Childhood Central Nervous System Neoplasm C132009 C5132 Childhood Central Nervous System Neoplasm Childhood Central Nervous System Neoplasm A benign or malignant neoplasm of the brain, spinal cord, or meninges occurring in children. Representative examples include posterior fossa astrocytoma, optic pathway glioma, medulloblastoma, ependymoma, and craniopharyngioma. A primary, benign or malignant neoplasm of the brain, spinal cord, or meninges occurring in children. C3268 Nervous System Neoplasm C132009 C9381 Childhood Acute Myeloid Leukemia with Maturation Childhood Acute Myeloid Leukemia with Maturation An acute myeloid leukemia with maturation occurring in children. An acute myeloid leukemia with maturation occurring in children. C3250 Acute Myeloid Leukemia with Maturation C132009 C3171 Acute Myeloid Leukemia Acute Myeloid Leukemia AML|Acute Granulocytic Leukemia|Acute Myelocytic Leukemia|Acute Myelogenous Leukemia A clonal expansion of myeloid blasts in the bone marrow, blood or other tissues. The classification of acute myeloid leukemias (AMLs) encompasses four major categories: 1) AML with recurrent genetic abnormalities; 2) AML with multilineage dysplasia; 3) Therapy-related AML; 4) AML not otherwise specified. The required bone marrow or peripheral blood blast percentage for the diagnosis of AML is 20% (WHO classification). A rapidly progressive cancer of the blood and bone marrow consisting of the proliferation of abnormal myeloblasts, which are immature, dysfunctional white blood cells. C3161 Leukemia C132009 C6205 Childhood Central Nervous System Germ Cell Tumor Childhood Central Nervous System Germ Cell Tumor A germ cell tumor of the central nervous system occurring in children. A germ cell tumor that arises from the central nervous system during childhood. C5132 Childhood Central Nervous System Neoplasm C7928 Childhood Germ Cell Tumor C132009 C5969 Childhood Brain Stem Neoplasm Childhood Brain Stem Tumor Childhood Brain Stem Neoplasm A neoplasm that affects the brain stem and occurs during childhood. A neoplasm that affects the brain stem and occurs during childhood. C35876 Childhood Intracranial Neoplasm C132009 C9158 Childhood Acute Myeloid Leukemia without Maturation Childhood Acute Myeloid Leukemia without Maturation An acute myeloid leukemia without maturation occurring in children. An acute myeloid leukemia without maturation occurring in children. C3249 Acute Myeloid Leukemia without Maturation C132009 C8094 Childhood Malignant Peripheral Nerve Sheath Tumor Childhood Malignant Peripheral Nerve Sheath Tumor Childhood Malignant Neurilemmoma|Childhood Malignant Schwannoma|Childhood Neurofibrosarcoma|Childhood Neurogenic Sarcoma A malignant peripheral nerve sheath tumor occurring in children. A malignant peripheral nerve sheath tumor occurring in children. C3268 Nervous System Neoplasm C132009 C3182 Acute Promyelocytic Leukemia with PML-RARA Acute Promyelocytic Leukemia with t(15;17)(q22;q12); PML-RARA APL|APML|Acute Promyelocytic Leukemia An acute myeloid leukemia (AML) in which abnormal promyelocytes predominate. It is characterized by the PML-RARA fusion. There are two variants: the typical and microgranular variant. This AML is particularly sensitive to treatment with all trans-retinoic acid and has a favorable prognosis. (WHO) Acute promyelocytic leukemia (APL) is a distinct subtype of acute myeloid leukemia (AML), and it is treated differently than other types of AML because of its marked sensitivity to differentiating effects of all trans-retinoic acid. APL is characterized by a severe coagulopathy which may be present at diagnosis. APL occurs in 7 % of children with AML. C7175 Acute Myeloid Leukemia with Recurrent Genetic Abnormalities C132009 C3249 Acute Myeloid Leukemia without Maturation Acute Myeloid Leukemia without Maturation An acute myeloid leukemia (AML) characterized by blasts without evidence of maturation to more mature neutrophils. (WHO, 2001) An acute myeloid leukemia (AML) characterized by blasts without evidence of significant maturation in the neutrophilic lineage. C3171 Acute Myeloid Leukemia C132009 C8644 B Acute Lymphoblastic Leukemia B Acute Lymphoblastic Leukemia B-ALL The most frequent type of acute lymphoblastic leukemia. Approximately 75% of cases occur in children under six years of age. This is a good prognosis leukemia. In the pediatric age group the complete remission rate is approximately 95% and the disease free survival rate is 70%. Approximately 80% of children appear to be cured. In the adult age group the complete remission rate is 60-85%. (WHO, 2001) An acute lymphoblastic leukemia of B-lineage origin. C3167 Acute Lymphoblastic Leukemia C132009 C9140 Childhood B Acute Lymphoblastic Leukemia Childhood B Acute Lymphoblastic Leukemia Childhood B-ALL An acute B-lymphoblastic leukemia occurring in children. An acute B-lymphoblastic leukemia occurring during childhood. C3168 Childhood Acute Lymphoblastic Leukemia C8644 B Acute Lymphoblastic Leukemia C132009 C7968 Childhood Acute Promyelocytic Leukemia with PML-RARA Childhood Acute Promyelocytic Leukemia with t(15;17)(q22;q12); PML-RARA Childhood APL with t(15;17)(q22;q12); PML-RARA|Childhood APL|Childhood APML with t(15;17)(q22;q12); PML-RARA|Childhood APML An acute promyelocytic leukemia with PML-RARA fusion occurring in children. An acute promyelocytic leukemia occurring in children. C9160 Childhood Acute Myeloid Leukemia C132009 C3183 T Acute Lymphoblastic Leukemia T Acute Lymphoblastic Leukemia T-ALL Acute lymphoblastic leukemia of T-cell origin. It comprises about 15% of childhood cases and 25% of adult cases. It is more common in males than females. (WHO, 2001) An acute lymphoblastic leukemia of T-lineage origin. C3167 Acute Lymphoblastic Leukemia C132009 C7816 Childhood Craniopharyngioma Childhood Craniopharyngioma A craniopharyngioma that occurs during childhood. The vast majority of cases are adamantinomatous craniopharyngiomas. Clinical signs and symptoms include endocrine deficiencies and visual disturbances. A craniopharyngioma that occurs during childhood. The vast majority of cases are adamantinomatous craniopharyngiomas. Clinical signs and symptoms include endocrine deficiencies and visual disturbances. C35876 Childhood Intracranial Neoplasm C132009 C8460 Acute Myeloid Leukemia with Minimal Differentiation Acute Myeloid Leukemia with Minimal Differentiation An acute myeloid leukemia (AML) in which the blasts do not show evidence of myeloid differentiation by morphology and conventional cytochemistry. (WHO, 2001) An acute myeloid leukemia (AML) in which the blasts do not show evidence of myeloid differentiation by morphology and conventional cytochemistry. (WHO, 2001) C3171 Acute Myeloid Leukemia C132009 C3250 Acute Myeloid Leukemia with Maturation Acute Myeloid Leukemia with Maturation An acute myeloid leukemia (AML) characterized by blasts with evidence of maturation to more mature neutrophils. (WHO, 2001) An acute myeloid leukemia (AML) characterized by blasts with evidence of significant maturation in the neutrophilic lineage. C3171 Acute Myeloid Leukemia C132009 C3728 Hepatoblastoma Hepatoblastoma A malignant liver neoplasm that occurs almost exclusively in infants, although isolated cases in older children and adults have been reported. Grossly, hepatoblastoma is solid, well circumscribed, and more often solitary than multiple. Microscopically, most of the tumors are composed exclusively of immature hepatocytic elements. About a fourth of hepatoblastomas contain a stromal component that may be undifferentiated or develop into bone or cartilage. The treatment of choice for hepatoblastoma is surgical excision with adjuvant therapy. Liver transplantation is being increasingly used as well. A malignant liver tumor that arises from precursors of hepatocytes. It occurs almost exclusively in infants. The lungs are the most common site of metastasis. C34803 Primary Malignant Liver Neoplasm C132009 C5961 Childhood Central Nervous System Embryonal Tumor, Not Otherwise Specified Childhood Central Nervous System Primitive Neuroectodermal Tumor Childhood CNS PNET A central nervous system embryonal tumor, not otherwise specified that occurs in childhood. A primitive neuroectodermal tumor that arises from the central nervous system during childhood. C114833 Childhood Central Nervous System Embryonal Neoplasm C132009 C4264 Clear Cell Sarcoma of the Kidney Clear Cell Sarcoma of the Kidney A rare pediatric sarcoma affecting the kidney. It is characterized by the presence of epithelioid or spindle cells forming cords or nests, separated by fibrovascular septa. It is associated with internal tandem duplications in the BCOR gene. It metastasizes to lung, bone, brain and soft tissue. A rare primary renal tumor characterized by nests or cords of cells that are separated by regularly spaced fibrovascular septa, and which are known to metastasize to lung, bone, brain and soft tissue. It is associated with internal tandem duplications in the BCOR gene. C9306 Soft Tissue Sarcoma C132009 C8715 Rhabdoid Tumor of the Kidney Rhabdoid Tumor of the Kidney Renal Rhabdoid Tumor A rhabdoid tumor that arises from the kidney. It occurs in children and it is associated with abnormalities of chromosome 22. It is characterized by the presence of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm. The prognosis is poor. A rhabdoid tumor that arises in the kidney. C3808 Rhabdoid Tumor C132009 C3407 Essential Thrombocythemia Essential Thrombocythemia ET|Essential Thrombocytosis A chronic myeloproliferative neoplasm that involves primarily the megakaryocytic lineage. It is characterized by sustained thrombocytosis in the blood, increased numbers of large, mature megakaryocytes in the bone marrow, and episodes of thrombosis and/or hemorrhage. (WHO, 2008) A chronic condition that involves primarily the megakaryocytic lineage. It is characterized by sustained thrombocytosis in the blood, increased numbers of large, mature megakaryocytes in the bone marrow, and elevated risk for thrombosis and/or hemorrhage. C35530 Thrombocytosis C132009 C38155 Recurrent Disease Recurrent Disease Relapsed Disease The return of a disease after a period of remission. The return of a disease after a period of remission. C3367 Finding C132009 C9233 Juvenile Myelomonocytic Leukemia Juvenile Myelomonocytic Leukemia Chronic Myelomonocytic Leukemia|JMML A myelodysplastic/myeloproliferative neoplasm of childhood that is characterized by proliferation principally of the granulocytic and monocytic lineages. Myelomonocytic proliferation is seen in the bone marrow and the blood. The leukemic cells may infiltrate any tissue, however liver, spleen, lymph nodes, skin, and respiratory tract are the most common sites of involvement. (WHO, 2001) A myelodysplastic/myeloproliferative neoplasm of childhood that is principally characterized by proliferation of the granulocytic and monocytic lineages. C4989 Childhood Leukemia C132009 C8923 Acute Erythroid Leukemia Acute Erythroid Leukemia An acute myeloid leukemia characterized by a predominant immature erythroid population. There are two subtypes recognized: erythroleukemia and pure erythroid leukemia. (WHO, 2001) An acute myeloid leukemia characterized by a predominant immature erythroid population. C3171 Acute Myeloid Leukemia C132009 C3170 Acute Megakaryoblastic Leukemia Acute Megakaryoblastic Leukemia AMKL An acute myeloid leukemia in which at least 50% of the blasts are of megakaryocytic lineage. (WHO, 2001) An acute myeloid leukemia in which at least 50% of the blasts are of megakaryocytic lineage. (WHO, 2001) C3171 Acute Myeloid Leukemia C132009 C5970 Childhood Cerebellar Neoplasm Childhood Cerebellar Tumor Childhood Cerebellar Neoplasm A neoplasm that affects the cerebellum and occurs during childhood. A neoplasm that affects the cerebellum and occurs during childhood. C35876 Childhood Intracranial Neoplasm C132009 C3168 Childhood Acute Lymphoblastic Leukemia Childhood Acute Lymphoblastic Leukemia Childhood ALL An acute lymphoblastic leukemia occurring during childhood. The majority of cases are B-acute lymphoblastic leukemias. Approximately 15% of the cases are T-acute lymphoblastic leukemias. An acute lymphoblastic leukemia occurring during childhood. The majority of cases are B-acute lymphoblastic leukemias. Approximately 15% of the cases are T-acute lymphoblastic leukemias. C3167 Acute Lymphoblastic Leukemia C4989 Childhood Leukemia C132009 C7703 Childhood Brain Neoplasm Childhood Brain Neoplasm A benign or malignant, primary or metastatic neoplasm of the brain occurring in children. A benign or malignant, primary or metastatic neoplasm of the brain, occurring in children. C35876 Childhood Intracranial Neoplasm C132009 C7541 Retinoblastoma Retinoblastoma A malignant tumor that originates in the nuclear layer of the retina. As the most common primary tumor of the eye in children, retinoblastoma is still relatively uncommon, accounting for only 1% of all malignant tumors in pediatric patients. Approximately 95% of cases are diagnosed before age 5. These tumors may be multifocal, bilateral, congenital, inherited, or acquired. Seventy-five percent of retinoblastomas are unilateral; 60% occur sporadically. A predisposition to retinoblastoma has been associated with 13q14 cytogenetic abnormalities. Patients with the inherited form also appear to be at increased risk for secondary nonocular malignancies such as osteosarcoma, malignant fibrous histiocytoma, and fibrosarcoma. A malignant tumor that originates in the nuclear layer of the retina. As the most common primary tumor of the eye in children, retinoblastoma is still relatively uncommon, accounting for only 1% of all malignant tumors in pediatric patients. Approximately 95% of cases are diagnosed before age 5. These tumors may be multifocal, bilateral, congenital, inherited, or acquired. Seventy-five percent of retinoblastomas are unilateral; 60% occur sporadically. A predisposition to retinoblastoma has been associated with 13q14 cytogenetic abnormalities. Patients with the inherited form also appear to be at increased risk for secondary nonocular malignancies such as osteosarcoma, malignant fibrous histiocytoma, and fibrosarcoma. C9305 Cancer C132009 C2992 Disseminated Intravascular Coagulation Disseminated Intravascular Coagulation DIC A pathological process where the blood starts to coagulate throughout the whole body. This depletes the body of its platelets and coagulation factors, and there is an increased risk of hemorrhage. Excessive activation of the body's coagulation system resulting in systemic microvascular thrombi formation. C2902 Coagulation Disorder C131658 Consumptive Coagulopathy C132009 C6204 Childhood Central Nervous System Teratoma Childhood Central Nervous System Teratoma A mature or immature teratoma affecting the central nervous system and occurring in children. A mature or immature teratoma that arises from the central nervous system during childhood. C6205 Childhood Central Nervous System Germ Cell Tumor C68626 Childhood Teratoma C132009 C9042 Childhood Brain Stem Glioma Childhood Brain Stem Glioma An abnormal growth of the cells that comprise the tissues of the brainstem. While the tumor may be histologically benign, it can produce great morbidity due to its location. It presents most commonly in the first two decades of life. An abnormal growth of the cells that comprise the tissues of the brainstem. While the tumor may be histologically benign, it can produce great morbidity due to its location. It presents most commonly during the first two decades of life. C5969 Childhood Brain Stem Tumor C132009 C6206 Childhood Central Nervous System Choriocarcinoma Childhood Central Nervous System Choriocarcinoma A choriocarcinoma that arises from the central nervous system and occurs during childhood. A choriocarcinoma that arises from the central nervous system during childhood. C6205 Childhood Central Nervous System Germ Cell Tumor C123844 Childhood Choriocarcinoma C132009 C6215 Childhood Anaplastic Astrocytoma Childhood Anaplastic Astrocytoma An anaplastic astrocytoma that arises from the central nervous system and occurs during childhood. An anaplastic astrocytoma that occurs during childhood. C124275 Childhood Astrocytoma C5448 Malignant Childhood Central Nervous System Neoplasm C132009 C6569 Congenital Mesoblastic Nephroma Congenital Mesoblastic Nephroma A low grade childhood congenital malignant neoplasm arising from the kidney. It is characterized by the presence of fibroblastic cells. The majority of cases occur in the first year of life. Complete excision is usually associated with an excellent prognosis. A low grade childhood congenital malignant neoplasm arising from the kidney, which is characterized by the presence of fibroblastic cells. C123907 Childhood Malignant Kidney Tumor C3262 Neoplasm C132009 C7970 Childhood Acute Myelomonocytic Leukemia Childhood Acute Myelomonocytic Leukemia An acute myelomonocytic leukemia occurring in children. An acute myelomonocytic leukemia occurring in children. This type corresponds to M4 in the FAB classification. C7463 Acute Myelomonocytic Leukemia C132009 C9160 Childhood Acute Myeloid Leukemia Childhood Acute Myeloid Leukemia Acute myeloid leukemia occurring in childhood. An acute myeloid leukemia occurring during childhood. C3171 Acute Myeloid Leukemia C4989 Childhood Leukemia C132009 C8061 Childhood Lymphocyte-Depleted Classical Hodgkin Lymphoma Childhood Lymphocyte-Depleted Classical Hodgkin Lymphoma Lymphocyte-depleted classical Hodgkin lymphoma occurring in childhood. A lymphocyte-depleted, classical Hodgkin lymphoma that occurs during childhood. C69142 Childhood Classical Hodgkin Lymphoma C132009 C3063 Graft Versus Host Disease Graft Versus Host Disease GvHD A reaction, which may be fatal, in an immunocompromised subject (host) who has received an antigenically incompatible tissue transplant (graft) from an immunocompetent donor. The reaction is secondary to the activation of the transplanted cells against those host tissues that express an antigen not expressed by the donor, and is seen most commonly following bone marrow transplantation; acute disease is seen after 5-40 days, and chronic disease occurs weeks to months after transplantation. A reaction, which may be fatal, in an immunocompromised subject (host) who has received an antigenically incompatible tissue transplant (graft) from an immunocompetent donor. The reaction is secondary to the activation of the transplanted cells against those host tissues that express an antigen not expressed by the donor, and is seen most commonly following stem cell transplantation; acute disease is seen after 5-40 days, and chronic disease occurs weeks to months after transplantation. C3507 Immune System Disorder C132009 C2869 Anemia Anemia A reduction in the number of red blood cells, the amount of hemoglobin, and/or the volume of packed red blood cells. Clinically, anemia represents a reduction in the oxygen-transporting capacity of a designated volume of blood, resulting from an imbalance between blood loss (through hemorrhage or hemolysis) and blood production. Signs and symptoms of anemia may include pallor of the skin and mucous membranes, shortness of breath, palpitations of the heart, soft systolic murmurs, lethargy, and fatigability. Abnormally low level of hemoglobin in the blood. C26323 Hematologic Disorder C132009 C2880 Ovarian Sertoli-Leydig Cell Tumor Ovarian Sertoli-Leydig Cell Tumor A benign or malignant sex cord-stromal tumor arising from the ovary. It is characterized by the presence of neoplastic Leydig cells. Signs and symptoms include hirsutism, menorrhagia and metrorrhagia. It may be associated with trisomy 8. A benign or malignant sex cord-stromal tumor arising from the ovary. It is characterized by the presence of neoplastic Leydig cells. It may be associated with trisomy 8. C39966 Ovarian Sertoli-Stromal Tumor C132009 C15430 Peripheral Blood Stem Cell Transplantation Peripheral Blood Stem Cell Transplantation PBSCT A method of hematopoietic reconstitution utilizing stem cells harvested from the circulating blood of a patient or donor. Peripheral blood stem cell transplantation (PBSCT) is used for the treatment of certain blood disorders, following partial or complete bone marrow ablation, or following high dose chemotherapy or radiation treatment for cancer. Immature circulating blood cells, similar to stem cells in the bone marrow, are removed before treatment. The cells are then given to the patient after treatment to help the bone marrow recover and continue producing healthy blood cells. Transplantation may be autologous (the patient's own blood cells are used), allogeneic (blood cells are donated by someone else), or syngeneic (blood cells are donated by an identical twin). A therapeutic procedure that involves the transplantation of mobilized hematopoietic stem cells harvested from a donor's peripheral blood to a recipient. C49236 Therapeutic Procedure C132009 C6966 Pineocytoma Pineocytoma Benign Pinealoma|Pinealocytoma A WHO grade I slow growing tumor, more frequently affecting young adults. It is composed of small, uniform, mature cells resembling pineocytes with occasional large pineocytomatous rosettes. It may show a wide range of divergent phenotypes, including neuronal, glial, melanocytic, photoreceptor and mesenchymal differentiation. Pineocytoma generally has a relatively favorable prognosis. (Adapted from WHO) A benign, slow growing, pineal parenchymal tumor that more frequently affects young adults. C115196 Childhood Pineal Parenchymal Cell Neoplasm C132009 C3446 Idiopathic Thrombocytopenic Purpura Immune Thrombocytopenic Purpura ITP|Idiopathic Thrombocytopenic Purpura An autoimmune disorder in which the number of circulating platelets is reduced due to their antibody-mediated destruction. ITP is a diagnosis of exclusion and is heterogeneous in origin. Disorder characterized by abnormally low level of circulating platelets, usually with normal hemoglobin/red blood cell and white blood cell levels, and thought to be secondary to autoimmune destruction. C3408 Thrombocytopenia C3991 Immune Thrombocytopenia C132009 C61236 Congenital Pure Red Cell Aplasia Congenital Pure Red Cell Aplasia Diamond-Blackfan Anemia An inherited condition characterized by aplasia of the erythroid series only. The white cells and platelets are not affected. Patients develop anemia usually in infancy. An inherited condition characterized by aplasia of the erythroid series only. The leukocytes and platelets are not affected. Patients develop anemia, usually in infancy. C104003 Congenital Hematological Disorder C34974 Pure Red Cell Aplasia C132009 C3520 Myeloid Sarcoma Myeloid Sarcoma A tumor mass composed of myeloblasts or immature myeloid cells. It occurs in extramedullary sites or the bone. (WHO, 2001) A tumor mass composed of myeloblasts or immature myeloid cells. It occurs in extramedullary sites or the bone. (WHO, 2001) C9118 Sarcoma C132009 C7955 Childhood Hepatocellular Carcinoma Childhood Hepatocellular Carcinoma A hepatocellular carcinoma occurring in children. A malignant tumor that arises from hepatocytes in children. It is associated with perinatally-acquired Hepatitis B virus. Cells are epithelial in appearance and typically arise in the right lobe of the liver. C7708 Childhood Malignant Liver Tumor C132009 C7972 Childhood Acute Megakaryoblastic Leukemia Childhood Acute Megakaryoblastic Leukemia Childhood AMKL An acute megakaryoblastic leukemia occurring in children. A subtype of acute myeloid leukemia involving the megakaryocytic line. The majority of the cases are associated with t(1;22)(p13;q13). The following recurrent genetic abnormalities have been reported with pediatric AMKL: NUP98/JARID1A, RBM15/MKL, and CBFA2T3/GLIS2. GATA1 mutations are not observed in non-Trisomy 21 (Down syndrome) children with AMKL. C3170 Acute Megakaryoblastic Leukemia C9160 Childhood Acute Myeloid Leukemia C132009 C6208 Childhood Central Nervous System Embryonal Carcinoma Childhood Central Nervous System Embryonal Carcinoma An embryonal carcinoma that arises from the central nervous system and occurs during childhood. An embryonal carcinoma that arises from the central nervous system during childhood. C6205 Childhood Central Nervous System Germ Cell Tumor C123847 Childhood Embryonal Carcinoma C132009 C7953 Childhood T Acute Lymphoblastic Leukemia Childhood T Acute Lymphoblastic Leukemia Childhood T-ALL An acute lymphoblastic leukemia of T-cell origin occurring in children. An acute T-lymphoblastic leukemia occurring during childhood. C3168 Childhood Acute Lymphoblastic Leukemia C3183 T Acute Lymphoblastic Leukemia C132009 C8062 Childhood Nodular Sclerosis Classical Hodgkin Lymphoma Childhood Nodular Sclerosis Classical Hodgkin Lymphoma Nodular sclerosis classical Hodgkin lymphoma occurring in childhood. A nodular sclerosis, classical Hodgkin lymphoma that occurs during childhood. C69142 Childhood Classical Hodgkin Lymphoma C132009 C15194 Bone Marrow Transplantation Bone Marrow Transplantation BMT A procedure to replace diseased or pathologic bone marrow with transplanted healthy bone marrow cells. A therapeutic procedure that involves the transplantation of bone marrow from a donor to a recipient. C49236 Therapeutic Procedure C132009 C9298 Acute Undifferentiated Leukemia Acute Undifferentiated Leukemia Stem Cell Leukemia A rare acute leukemia of ambiguous lineage in which the blasts do not express markers specific to myeloid or lymphoid lineage. A rare acute leukemia in which the blasts do not express markers specific to myeloid or lymphoid lineage. C7464 Acute Leukemia of Ambiguous Lineage C132009 C7708 Childhood Malignant Liver Neoplasm Childhood Malignant Liver Tumor Childhood Malignant Liver Neoplasm A malignant neoplasm of the liver developed in childhood. Representative examples include hepatoblastoma, undifferentiated (embryonal) sarcoma, and extrarenal rhabdoid tumor. A malignant tumor of the liver occurring during childhood. C34803 Primary Malignant Liver Neoplasm C132009 C8304 Childhood Acute Myeloid Leukemia with Minimal Differentiation Childhood Acute Myeloid Leukemia with Minimal Differentiation An acute myeloid leukemia with minimal differentiation occurring in children. An acute myeloid leukemia with minimal differentiation occurring in children. C8460 Acute Myeloid Leukemia with Minimal Differentiation C132009 C9163 Childhood Acute Monocytic Leukemia Childhood Acute Monocytic Leukemia An acute monocytic leukemia occurring in children. An acute monocytic leukemia occurring during childhood. C7940 Childhood Acute Monoblastic and Monocytic Leukemia C132009 C7952 Childhood Burkitt Leukemia Childhood Burkitt Leukemia The leukemic counterpart of Burkitt lymphoma occurring in children. The characteristic Burkitt cells are seen in the bone marrow and the peripheral blood. This is an aggressive leukemia. A mature B cell leukemia that is the leukemic counterpart of Burkitt lymphoma occurring in children. C4989 Childhood Leukemia C132009 C6209 Childhood Central Nervous System Yolk Sac Tumor Childhood Central Nervous System Yolk Sac Tumor A yolk sac tumor that arises from the central nervous system and occurs during childhood. A yolk sac tumor that arises from the central nervous system during childhood. C6205 Childhood Central Nervous System Germ Cell Tumor C68632 Childhood Extragonadal Malignant Germ Cell Tumor C132009 C8063 Childhood Mixed Cellularity Classical Hodgkin Lymphoma Childhood Mixed Cellularity Classical Hodgkin Lymphoma Mixed cellularity classical Hodgkin lymphoma occurring in childhood. A mixed cellularity, classical Hodgkin lymphoma that occurs during childhood. C69142 Childhood Classical Hodgkin Lymphoma C132009 C7535 Childhood Visual Pathway Glioma Childhood Visual Pathway Glioma A glioma affecting the optic tract and occurring in childhood. A glioma affecting the optic tract that occurs during childhood. C7703 Childhood Brain Neoplasm C132009 C9095 Childhood Burkitt Lymphoma Childhood Burkitt Lymphoma Childhood Small Non-Cleaved Cell Lymphoma|Pediatric Small Non-Cleaved Cell Lymphoma A Burkitt lymphoma occurring in children. An aggressive lymphoma showing a mature B cell phenotype with the malignant cells expressing surface immunoglobulin. It is characterized by a consistent chromosomal translocation, usually t(8;14), or rarely t(8;22) or t(2;8). It accounts for 40% of childhood non-Hodgkin lymphoma. C7706 Childhood Non-Hodgkin Lymphoma C132009 C7714 Childhood Hodgkin Lymphoma Childhood Hodgkin Lymphoma Hodgkin lymphoma occurring in childhood. A lymphoma arising from germinal center B cells, which is characterized by multinucleated giant cells (Reed-Sternberg cells) in a background of inflammatory cells. C5165 Childhood Lymphoma C132009 C9162 Childhood Acute Monoblastic Leukemia Childhood Acute Monoblastic Leukemia An acute monoblastic leukemia occurring in children. An acute monoblastic leukemia occurring during childhood. C7940 Childhood Acute Monoblastic and Monocytic Leukemia C132009 C5136 Childhood Glioblastoma Childhood Glioblastoma A glioblastoma that occurs during childhood. A glioblastoma that occurs during childhood. C9022 Childhood Astrocytic Tumor C5448 Malignant Childhood Central Nervous System Neoplasm C132009 C8060 Childhood Nodular Lymphocyte Predominant Hodgkin Lymphoma Childhood Nodular Lymphocyte Predominant Hodgkin Lymphoma A nodular lymphocyte predominant Hodgkin lymphoma occurring in children. A nodular lymphocyte-predominant, non-classical Hodgkin lymphoma that occurs during childhood. C7714 Childhood Hodgkin Lymphoma C132009 C62505 Fanconi Anemia Fanconi Anemia An autosomal recessive genetic disorder characterized by bone marrow failure, skeletal abnormalities, and an increase incidence of development of neoplasias. A chromosomal instability syndrome that is the most common form of inherited aplastic anemia. It is inherited as an autosomal recessive or X-linked disorder. In addition to bone marrow failure, it is associated with skeletal abnormalities and increased incidence of the development of malignancy. Multiple genes are responsible for Fanconi anemia. C2870 Aplastic Anemia C132009 C82431 Acute Myeloid Leukemia with Mutated NPM1 Acute Myeloid Leukemia with Mutated NPM1 AML with Mutated NPM1 An acute myeloid leukemia with mutation of the nucleophosmin gene. It is usually associated with normal karyotype and frequently has myelomonocytic or monocytic features. It usually responds to induction therapy. An acute myeloid leukemia (AML) with mutation of the nucleophosmin gene. It is usually associated with normal karyotype. It is seen in 8% of children with AML. C7175 Acute Myeloid Leukemia with Recurrent Genetic Abnormalities C132009 C78797 Thrombotic Thrombocytopenic Purpura Thrombotic Thrombocytopenic Purpura TTP A coagulation disorder characterized by extensive formation of thrombi in small blood vessels throughout the body due to low levels of ADAMTS13 protein, and resulting in consumption of circulating platelets, which is characterized by thrombocytopenia, anemia, neurologic changes, and sometimes fever and renal dysfunction. A coagulation disorder characterized by extensive formation of thrombi in small blood vessels throughout the body due to low levels of ADAMTS13 protein, and resulting in consumption of circulating platelets, which is characterized by thrombocytopenia, anemia, neurologic changes, and sometimes fever and renal dysfunction. C78787 Purpura C3991 Immune Thrombocytopenia C132009 C15431 Hematopoietic Cell Transplantation Hematopoietic Stem Cell Transplantation HSCT A therapeutic procedure that involves the transplantation of hematopoietic stem cells from a donor to a patient with a myeloid or lymphocytic malignancy. A therapeutic procedure that involves the transplantation of hematopoietic stem cells from a donor to a recipient. C49236 Therapeutic Procedure C132009 C68659 Childhood B Acute Lymphoblastic Leukemia with t(9;22)(q34.1;q11.2); BCR-ABL1 Childhood B Acute Lymphoblastic Leukemia with t(9;22)(q34;q11.2); BCR-ABL1 Philadelphia-Positive ALL A B-cell acute leukemia occurring in childhood. It is characterized by the presence of lymphoblasts that carry a translocation between the BCR gene on chromosome 22 and the ABL1 gene on chromosome 9. It results in the production of the p190 kd or p210 kd fusion protein. It has an unfavorable clinical outcome. Acute lymphoblastic leukemia occurring during childhood that is characterized by the presence of the Philadelphia chromosome t(9;22), which leads to production of a BCR-ABL1 fusion protein with tyrosine kinase activity. C9140 Childhood B Acute Lymphoblastic Leukemia C132009 C34383 Sickle Cell Disease Sickle Cell Disease Sickle Cell Anemia|Sickling Disorder due to Hemoglobin S A blood disorder characterized by the appearance of sickle-shaped red blood cells and anemia. An autosomal recessive disorder characterized by sickle-shaped erythrocytes, anemia, functional asplenia, and episodic acute and chronic organ toxicity due to vaso-occlusion. C3092 Hemoglobinopathy C132009 C8066 Metastatic Childhood Soft Tissue Sarcoma Metastatic Childhood Soft Tissue Sarcoma A sarcoma that arises from the soft tissues during childhood and has spread from the original site of growth to another anatomic site. A sarcoma that arises from the soft tissues during childhood, and has spread from the original site of growth to another anatomic site. C7715 Childhood Soft Tissue Sarcoma C132009 C3016 Eosinophilic Granuloma Unifocal Langerhans Cell Histiocytosis Chronic Unifocal Langerhans Cell Histiocytosis|Eosinophilic Granuloma|Eosinophilic Xanthomatous Granuloma|Monostotic Langerhans Cell Histiocytosis A clinical variant of Langerhans cell histiocytosis characterized by unifocal involvement of a bone (most often), skin, or lung. Patients are usually older children or adults usually presenting with a lytic bone lesion. The etiology is unknown. Morphologically, eosinophilic granuloma is characterized by the presence of Langerhans cells in a characteristic milieu which includes histiocytes, eosinophils, neutrophils, and small, mature lymphocytes. A clinical variant of Langerhans cell histiocytosis that is characterized by unifocal involvement of a bone (most often), skin, or lung. Patients are usually older children or adults, often presenting with a lytic bone lesion of an unknown etiology. Morphologically, eosinophilic granuloma is characterized by the presence of Langerhans cells in a characteristic milieu that includes histiocytes, eosinophils, neutrophils, and small, mature lymphocytes. C123396 Childhood Langerhans Cell Histiocytosis without Risk Organ Involvement C3107 Langerhans Cell Histiocytosis C132009 C7211 Childhood Primary Cutaneous Anaplastic Large Cell Lymphoma Childhood Primary Cutaneous Anaplastic Large Cell Lymphoma An anaplastic large cell lymphoma that occurs during childhood and is limited to the skin at the time of diagnosis. An anaplastic large cell lymphoma that occurs during childhood, and is limited to the skin at the time of diagnosis. C5636 Childhood Anaplastic Large Cell Lymphoma C132009 C6543 Childhood Testicular Yolk Sac Tumor Childhood Testicular Yolk Sac Tumor A yolk sac tumor that arises from the testis during childhood. A yolk sac tumor that arises from the testis during childhood. C68628 Childhood Malignant Testicular Germ Cell Tumor C123843 Childhood Testicular Non-Seminomatous Germ Cell Tumor C132009 C9022 Childhood Astrocytic Tumor Childhood Astrocytic Tumor An astrocytic tumor appearing before the age of twenty one without designation of benign or malignant nor designated location. An astrocytic tumor arising during childhood, without designation of benign or malignant, nor a designated location. C5132 Childhood Central Nervous System Neoplasm C132009 C5636 Childhood Anaplastic Large Cell Lymphoma Childhood Anaplastic Large Cell Lymphoma An anaplastic large cell lymphoma that occurs during childhood. An anaplastic large cell lymphoma that occurs during childhood. C7706 Childhood Non-Hodgkin Lymphoma C132009 C7715 Childhood Soft Tissue Sarcoma Childhood Soft Tissue Sarcoma Soft tissue sarcoma occurring in childhood. A heterogeneous group of malignant tumors in childhood that originate from primitive mesenchymal tissue. C9306 Soft Tissue Sarcoma C132009 C6551 Childhood Ovarian Yolk Sac Tumor Childhood Ovarian Yolk Sac Tumor A yolk sac tumor that arises from the ovary and occurs in children. A yolk sac tumor that arises from the ovary during childhood. C68629 Childhood Malignant Ovarian Germ Cell Tumor C123842 Childhood Ovarian Non-Germinomatous Germ Cell Tumor C132009 C118437 Glycogen Storage Disease Type VII Glycogen Storage Disease Type VII Phosphofructokinase Deficiency A rare, autosomal recessive inherited metabolic disorder caused by mutation in the PFKM gene. It results in the deficiency of the M subunit of the phosphofructokinase enzyme. It is characterized by the presence of muscle pain and weakness and sometimes rhabdomyolysis with myoglobinuria, following exercise. Affected infants develop muscle weakness. Patients with the hemolytic form of this disorder develop hemolytic anemia without signs or symptoms of muscle pain and weakness. A rare, autosomal recessive, inherited, metabolic disorder that is caused by mutation of the PFKM gene, resulting in the deficiency of the M subunit of the phosphofructokinase enzyme. It is characterized by the presence of muscle pain and weakness and sometimes rhabdomyolysis with myoglobinuria, following exercise; affected infants develop muscle weakness. Patients with the hemolytic form of this disorder develop hemolytic anemia without signs or symptoms of muscle pain and weakness. C131630 Anemia due to Erythrocyte Enzyme Disorder C61272 Glycogen Storage Disease C132009 C9288 Acute Myeloid Leukemia with t(8;21); (q22; q22.1); RUNX1-RUNX1T1 Acute Myeloid Leukemia with t(8;21)(q22;q22); RUNX1-RUNX1T1 AML with t(8;21)(q22;q22); RUNX1-RUNX1T1 An acute myeloid leukemia with t(8;21)(q22; q22.1) giving rise to RUNX1/RUNX1T1 fusion transcript and showing maturation in the neutrophil lineage. The bone marrow and the peripheral blood show large myeloblasts with abundant basophilic cytoplasm, often containing azurophilic granules. This type of AML is associated with good response to chemotherapy and high complete remission rate. An acute myeloid leukemia (AML) associated with t(8;21)(q22;q22) resulting in RUNX1-RUNX1T1 fusion protein expression. This is seen in 12% of children with AML. C7175 Acute Myeloid Leukemia with Recurrent Genetic Abnormalities C132009 C82403 Acute Myeloid Leukemia with t(9;11)(p22.3;q23.3); MLLT3-KMT2A Acute Myeloid Leukemia with t(9;11)(p22;q23); MLLT3-MLL AML with t(9;11)(p22;q23); MLLT3-MLL An acute myeloid leukemia associated with t(9;11)(p22.3;q23.3) and MLLT3-KMT2A fusion protein expression. Morphologically it usually has monocytic features. It may present at any age but it is more commonly seen in children. Patients may present with disseminated intravascular coagulation. An acute myeloid leukemia associated with t(9;11)(p22;q23) and MLLT3 (AF9)-MLL fusion protein expression. t(9;11) occurs in 10% of children with AML. C7175 Acute Myeloid Leukemia with Recurrent Genetic Abnormalities C132009 C36056 Acute Myeloid Leukemia with t(11;17)(q23;q21) Acute Myeloid Leukemia with t(11;17)(q23;q21) APL with t(11;17)(q23;q21); PLZF-RARA|APL with t(11;17)(q23;q21); ZBTB16-RARA|Acute Promyelocytic Leukemia with t(11;17)(q23;q21); PLZF-RARA|Acute Promyelocytic Leukemia with t(11;17)(q23;q21); ZBTB16-RARA Acute myeloid leukemia with the variant RARA t(11;17)(q23;q21) and the expression of PLZF-RARA fusion protein. It lacks differentiation response to retinoids treatment. Acute myeloid leukemia with the variant RARA t(11;17)(q23;q21) and the expression of PLZF-RARA fusion protein. It does not respond to retinoid treatment. C7175 Acute Myeloid Leukemia with Recurrent Genetic Abnormalities C132009 C15640 Umbilical Cord Blood Transplantation Cord Blood Transplantation Umbilical Cord Blood Transplantation A therapeutic procedure that involves the transplantation of hematopoietic stem cells collected from the umbilical cord or placenta. A therapeutic procedure that involves the transplantation of hematopoietic stem cells collected from the umbilical cord or placenta. C49236 Therapeutic Procedure C132009 C121974 Ph-Like Acute Lymphoblastic Leukemia Philadelphia-Like Acute Lymphoblastic Leukemia BCR-ABL1-like ALL|BCR-ABL1-like Acute Lymphoblastic Leukemia|Ph-Like Acute Lymphoblastic Leukemia|Ph-like ALL|Philadelphia-like ALL A leukemia subtype characterized by a gene-expression profile similar to that of BCR-ABL1-positive acute lymphoblastic leukemia, alterations of lymphoid transcription factor genes, and a poor outcome. A subtype of high risk B cell acute lymphoblastic leukemia (ALL) in which patients have a gene-expression profile similar to that of BCR-ABL1 positive ALL, but who all lack the BCR-ABL1 fusion gene. Similar to patients with BCR-ABL1 positive ALL, patients with Ph-like ALL frequently harbor alterations in lymphoid transcription factors. This is clinically important because of the presence of kinase-activating alterations that are amenable to treatment with currently available tyrosine kinase inhibitors. This subtype occurs in 10-15% of pediatric ALL patients and increases in frequency with age. C3167 Acute Lymphoblastic Leukemia C132009 C5669 Pleuropulmonary Blastoma Pleuropulmonary Blastoma A malignant neoplasm affecting the lungs and/or the pleura. Pleuropulmonary blastoma is seen in children. Microscopically, the tumor may show features of chondrosarcoma, leiomyosarcoma, rhabdomyosarcoma, liposarcoma, or undifferentiated sarcoma. In approximately 25% of patients with pleuropulmonary blastoma, there are other lesions or neoplasms that may affect patients or their families, including lung or kidney cysts, and ovarian or testicular neoplasms. Heterozygous germline mutations in DICER1 gene have been identified in families harboring pleuropulmonary blastomas. A malignant neoplasm affecting the lungs and/or the pleura. Pleuropulmonary blastoma is seen in children. Microscopically, the tumor may show features of chondrosarcoma, leiomyosarcoma, rhabdomyosarcoma, liposarcoma, or undifferentiated sarcoma. In approximately 25% of patients there is a predisposition for other tumors. Heterozygous germline mutations in DICER1 gene have been identified in families harboring pleuropulmonary blastomas. C9305 Cancer C132009 C75545 Hemolytic Uremic Syndrome Hemolytic Uremic Syndrome HUS|Hemolytic-Uremic Syndrome Acute kidney injury associated with microangiopathic hemolytic anemia and thrombocytopenia. Acute kidney injury associated with microangiopathic hemolytic anemia and thrombocytopenia. C26323 Hematologic Disorder C132009 C3794 Sex Cord-Stromal Tumor Sex Cord-Stromal Tumor A neoplasm arising in the ovary or testis. It is composed of granulosa cells, Leydig cells, Sertoli cells, and fibroblasts. Each of these cell types may constitute the only cellular component that is present in the neoplasm or it may be mixed with other cell types in various combinations. The prognosis can not always be predicted on histologic grounds alone. Approximately, 10% of these tumors may metastasize. Representative examples include granulosa cell tumor, Leydig cell tumor, Sertoli cell tumor, and tumors of the thecoma-fibroma group. A tumor arising in the ovary or testis. It is composed of one or more of the following: granulosa cells, Leydig cells, Sertoli cells, and/or fibroblasts. C3262 Neoplasm C132009 C3188 Leydig Cell Tumor Leydig Cell Tumor A sex cord-stromal tumor occurring in the testis and rarely in the ovary. It is predominantly or completely composed of Leydig cells which may contain crystals of Reinke. In males it usually presents as a painless testicular enlargement and it may be associated with gynecomastia and decreased libido. The majority of the cases have a benign clinical course. Approximately 10% of the cases have a malignant clinical course and metastasize. In females it may be associated with androgenic manifestations and it follows a benign clinical course. A sex cord-stromal tumor, comprising Leydig cells, either predominantly or completely, occurring in the testis and rarely in the ovary. C3794 Sex Cord-Stromal Tumor C132009 C27364 Childhood Yolk Sac Tumor Childhood Yolk Sac Tumor A yolk sac tumor that occurs during childhood. A yolk sac tumor occurring in children. C123841 Childhood Non-Germinomatous Germ Cell Tumor C132009 C7706 Childhood Non-Hodgkin Lymphoma Childhood Non-Hodgkin Lymphoma Childhood NHL Non-Hodgkin lymphoma occurring in childhood. A high-grade lymphoma occurring in children of either B, T, or NK cell lineage, with either precursor or mature cell phenotype. C5165 Childhood Lymphoma C132009 C5447 Childhood Anaplastic Oligodendroglioma Childhood Anaplastic Oligodendroglioma An anaplastic oligodendroglioma that arises from the central nervous system and occurs during childhood. An anaplastic oligodendroglioma that occurs during childhood. C4045 Childhood Oligodendroglioma C5448 Malignant Childhood Central Nervous System Neoplasm C132009 C26692 Factor I Deficiency Factor I Deficiency Fibrinogen Deficiency|Hypofibrinogenemia A usually inherited blood coagulation disorder characterized by the partial or complete absence of fibrinogen in the blood, resulting in bleeding. A coagulation disorder characterized by the partial or complete absence of fibrinogen (factor I) activity in the blood. C27215 Coagulation Factor Deficiency C36292 Laboratory Test Result C132009 C7463 Acute Myelomonocytic Leukemia Acute Myelomonocytic Leukemia An acute leukemia characterized by the proliferation of both neutrophil and monocyte precursors. (WHO, 2001) An acute leukemia characterized by the proliferation of both neutrophil and monocyte precursors. (WHO, 2001) C3171 Acute Myeloid Leukemia C132009 C9287 Acute Myeloid Leukemia with inv(16)(p13.1q22) or t(16;16)(p13.1;q22); CBFB-MYH11 Acute Myeloid Leukemia with inv(16)(p13.1q22) or t(16;16)(p13.1;q22); CBFB-MYH11 AML with inv(16)(p13.1q22) or t(16;16)(p13.1;q22); CBFB-MYH11 An acute myeloid leukemia with monocytic and granulocytic differentiation and the presence of a characteristically abnormal eosinophil component in the bone marrow. This type of acute myeloid leukemia has a favorable prognosis. (WHO, 2001) Acute myeloid leukemia characterized by the presence of abnormal bone marrow eosinophils and the characteristic cytogenetic abnormality inv(16)(p13.1q22) or t(16;16)(p13.1;q22), which results in the expression of the fusion protein CBFB-MYH11. This is seen in 7-9% of children with AML. C7175 Acute Myeloid Leukemia with Recurrent Genetic Abnormalities C132009 C7464 Acute Leukemia of Ambiguous Lineage Acute Leukemia of Ambiguous Lineage Acute Leukemia of Indeterminate Lineage An acute leukemia in which the blasts lack sufficient evidence to classify as myeloid or lymphoid or they have morphologic and/or immunophenotypic characteristics of both myeloid and lymphoid cells. (WHO, 2001) A rare subtype of acute leukemia in which the blasts lack sufficient evidence to classify as myeloid or lymphoid, or they have morphologic and/or immunophenotypic characteristics of both myeloid and lymphoid cells. These subtypes account for less than 4% of cases of acute leukemia. C3161 Leukemia C132009 C27912 Therapy-Related Myeloid Neoplasm Therapy-Related Myeloid Neoplasm Acute myeloid leukemias, myelodysplastic syndromes, and myelodysplastic/myeloproliferative neoplasms arising as a result of the mutagenic effect of chemotherapy agents and/or radiation that are used for the treatment of neoplastic or non-neoplastic disorders. Acute myeloid leukemias, myelodysplastic syndromes, and myelodysplastic/myeloproliferative neoplasms arising as a result of the mutagenic effect of chemotherapy agents and/or radiation that are used for the treatment of neoplastic or non-neoplastic disorders. C3262 Neoplasm C132009 C4672 Testicular Sertoli Cell Tumor Testicular Sertoli Cell Tumor A sex cord-stromal tumor that arises from the testis and is characterized by the presence of neoplastic cells with features of Sertoli cells. It usually presents as a slow growing testicular mass. The vast majority of cases follow a benign clinical course. A Sertoli cell tumor that occurs in the testis. C39976 Sertoli Cell Tumor C6358 Testicular Sex Cord-Stromal Tumor C132009 C6357 Testicular Granulosa Cell Tumor Testicular Granulosa Cell Tumor A rare sex cord-stromal tumor that arises from the testis. It is characterized by the presence of granulosa-like cells and Call-Exner bodies. There are two variants described, the adult and the juvenile. A granulosa cell tumor that occurs in the testis. C3070 Granulosa Cell Tumor C6358 Testicular Sex Cord-Stromal Tumor C132009 C6356 Testicular Leydig Cell Tumor Testicular Leydig Cell Tumor A sex cord-stromal tumor that arises from the testis and is characterized by the presence of cells that resemble the successive stages of development of Leydig cells. It usually presents as a painless testicular mass. Gynecomastia is present in approximately thirty percent of the cases. Libido may be decreased. In children, precocious puberty may be present. A minority of cases exhibit malignant characteristics. A Leydig cell tumor that occurs in the testis. C3188 Leydig Cell Tumor C6358 Testicular Sex Cord-Stromal Tumor C132009 C6358 Testicular Sex Cord-Stromal Tumor Testicular Sex Cord-Stromal Tumor A benign or malignant tumor that arises from the testis. It is composed of granulosa cells, Leydig cells, Sertoli cells, and fibroblasts. Each of these cell types may constitute the only cellular component that is present in the tumor or it may be mixed with other cell types in various combinations. The prognosis can not always be predicted on histologic grounds alone. Approximately, ten percent of these tumors may metastasize. Representative examples include granulosa cell tumor, Leydig cell tumor, Sertoli cell tumor, and tumors of the thecoma-fibroma group. A sex cord-stromal tumor that occurs in the testis. C3794 Sex Cord-Stromal Tumor C132009 C4244 Infantile Fibrosarcoma Infantile Fibrosarcoma A fibrosarcoma that occurs in infants. It shares identical morphologic features with adult fibrosarcoma but carries the t(12;15)(p13;q25) translocation that results in ETV6-NTRK3 gene fusion. It usually affects the superficial and deep soft tissues of the extremities. The prognosis is generally much more favorable than for adult fibrosarcoma, and it rarely metastasizes. A fibrosarcoma typically congenital, and occurring most commonly within the first three months of life, sharing identical morphologic features with adult fibrosarcoma but rarely metastatic. It usually affects the superficial and deep soft tissues of the extremities. The majority of infantile fibrosarcomas carry the t(12;15)(p13;q25) translocation. C8088 Childhood Fibrosarcoma C132009 C27146 Hemophilia A Hemophilia A Factor VIII Deficiency|Hereditary Factor VIII Deficiency Disease|Hereditary Factor VIII Deficiency An inherited deficiency of coagulation factor VIII characterized by the tendency to spontaneous or exaggerated post-traumatic hemorrhage. Inherited as an X-linked recessive disease, hemophilia A is the most common hemophilia, occurring in approximately 1 in 10,000 male births. An X-linked recessive deficiency of coagulation factor VIII characterized by a tendency to bleed. Hemophilia A, the most common type of hemophilia, occurs in approximately 1 in 4,000 to 1 in 5,000 live male births. C3093 Hemophilia C98942 Hereditary Coagulation Factor Deficiency C132009 C84479 Thrombophilia Thrombophilia Hypercoagulability State|Hypercoagulability|Hypercoagulable A condition characterized by an abnormally high level of thrombi. Causes include thrombotic thrombocytopenic purpura, disseminated intravascular coagulation, bone marrow disorders, and antiphospholipid antibody syndrome. Abnormally increased tendency of the blood to form clots. C2902 Coagulation Disorder C132009 C6261 Ovarian Granulosa Cell Tumor Ovarian Granulosa Cell Tumor A granulosa-stromal cell tumor that arises from the ovary. It is characterized by the presence of granulosa cells that comprise at least ten percent of the cellular population. The granulosa cells are often found in a background that contains theca and fibrous cells. There are two major subtypes recognized, adult and juvenile granulosa cell tumor. Clinically, patients may present with an abdominal mass. Symptoms depend on the patient's age. The most important indicator of prognosis is tumor stage. Age over forty years at the time of the initial diagnosis, large tumor size, bilaterality, cellular atypia, and increased mitotic activity are factors indicating a potentially aggressive clinical course and relative poor prognosis. A granulosa cell tumor that occurs in the ovary. C3070 Granulosa Cell Tumor C7287 Ovarian Granulosa-Stromal Tumor C132009 C5231 Ovarian Leydig Cell Tumor Ovarian Leydig Cell Tumor A rare, benign steroid tumor that arises from the ovary and is composed of Leydig cells that contain Reinke crystals. It usually affects postmenopausal women and in most cases, is associated with androgenic manifestations. A Leydig cell tumor that occurs in the ovary. C3188 Leydig Cell Tumor C132009 C4862 Ovarian Sex Cord-Stromal Tumor Ovarian Sex Cord-Stromal Tumor A benign or malignant neoplasm that arises from the ovary and is composed of granulosa cells, Sertoli cells, Leydig cells, theca cells, and fibroblasts. Representative examples include thecoma, fibroma, Sertoli cell tumor, and granulosa cell tumor. A sex cord-stromal tumor that occurs in the ovary. C3794 Sex Cord-Stromal Tumor C132009 C2902 Coagulation Disorder Coagulation Disorder Coagulation Defect|Coagulopathy A condition in which there is a deviation from or interruption of the normal coagulation properties of the blood. A condition of abnormal blood clotting or bleeding. C2931 Cardiovascular Disorder C26323 Hematologic Disorder C132009 C8588 Childhood Ovarian Germ Cell Tumor Childhood Ovarian Germ Cell Tumor A germ cell tumor that arises from the ovary and occurs in children. A germ cell tumor that arises from the ovary during childhood. C114801 Childhood Gonadal Germ Cell Tumor C3873 Ovarian Germ Cell Tumor C132009 C6548 Childhood Ovarian Mature Teratoma Childhood Ovarian Mature Teratoma A mature teratoma that arises from the ovary and occurs in children. A mature teratoma that arises from the ovary during childhood. C123836 Childhood Mature Teratoma C6554 Childhood Ovarian Teratoma C132009 C6568 Childhood Renal Cell Carcinoma Childhood Renal Cell Carcinoma A renal cell carcinoma that occurs during childhood. A renal cell carcinoma that occurs during childhood. C123907 Childhood Malignant Kidney Tumor C9385 Renal Cell Carcinoma C132009 C9471 Childhood Systemic Anaplastic Large Cell Lymphoma Childhood Systemic Anaplastic Large Cell Lymphoma A systemic anaplastic large cell lymphoma that occurs during childhood. A systemic, anaplastic, large cell lymphoma that occurs during childhood. C5636 Childhood Anaplastic Large Cell Lymphoma C132009 C7320 Childhood Chronic Myelogenous Leukemia, BCR-ABL1 Positive Childhood Chronic Myelogenous Leukemia, BCR-ABL1 Positive A chronic myelogenous leukemia occurring during childhood. A BCR-ABL1 positive chronic myelogenous leukemia occurring during childhood. C4989 Childhood Leukemia C132009 C7928 Childhood Germ Cell Tumor Childhood Germ Cell Tumor A germ cell tumor that occurs during childhood. A germ cell tumor that occurs during childhood. C3708 Germ Cell Tumor C132009 C6544 Childhood Testicular Choriocarcinoma Childhood Testicular Choriocarcinoma A choriocarcinoma that arises from the testis during childhood. A choriocarcinoma that arises from the testis during childhood. C123844 Childhood Choriocarcinoma C68628 Childhood Malignant Testicular Germ Cell Tumor C132009 C6545 Childhood Testicular Embryonal Carcinoma Childhood Testicular Embryonal Carcinoma An embryonal carcinoma that arises from the testis during childhood. An embryonal carcinoma that arises from the testis during childhood. C123847 Childhood Embryonal Carcinoma C68628 Childhood Malignant Testicular Germ Cell Tumor C132009 C7054 Childhood Lymphocyte-Rich Classical Hodgkin Lymphoma Childhood Lymphocyte-Rich Classical Hodgkin Lymphoma Lymphocyte-rich classical Hodgkin lymphoma occurring in childhood. A lymphocyte-rich, classical Hodgkin lymphoma that occurs during childhood. C69142 Childhood Classical Hodgkin Lymphoma C132009 C9164 Childhood Acute Erythroid Leukemia Childhood Acute Erythroid Leukemia An acute erythroid leukemia occurring in children. A subtype of acute myeloid leukemia occurring in children that involves the erythroid line. C8923 Acute Erythroid Leukemia C132009 C6547 Childhood Ovarian Immature Teratoma Childhood Ovarian Immature Teratoma An immature teratoma that arises from the ovary and occurs in children. An immature teratoma that arises from the ovary during childhood. C123834 Childhood Immature Teratoma C68629 Childhood Malignant Ovarian Germ Cell Tumor C132009 C6549 Childhood Ovarian Choriocarcinoma Childhood Ovarian Choriocarcinoma A non-gestational choriocarcinoma that arises from the ovary and occurs in children. A non-gestational choriocarcinoma that arises from the ovary during childhood. C123844 Childhood Choriocarcinoma C68629 Childhood Malignant Ovarian Germ Cell Tumor C132009 C6554 Childhood Ovarian Teratoma Childhood Ovarian Teratoma A mature or immature teratoma that arises from the ovary and occurs in children. A mature or immature teratoma that arises from the ovary during childhood. C123842 Childhood Ovarian Non-Germinomatous Germ Cell Tumor C68626 Childhood Teratoma C132009 C9174 Childhood Angiosarcoma Childhood Angiosarcoma An angiosarcoma occurring in childhood. An angiosarcoma occurring during childhood. C7715 Childhood Soft Tissue Sarcoma C132009 C7959 Childhood Pleomorphic Rhabdomyosarcoma Childhood Pleomorphic Rhabdomyosarcoma Childhood Anaplastic Rhabdomyosarcoma A rare aggressive rhabdomyosarcoma occurring in children. The neoplasm is characterized by the presence of bizarre round, spindle, and polygonal cells. A pleomorphic rhabdomyosarcoma occurring in children. C7705 Childhood Rhabdomyosarcoma C132009 C9079 Childhood Immunoblastic Lymphoma Childhood Immunoblastic Lymphoma An immunoblastic lymphoma (a variant of diffuse large B-cell lymphoma) occurring in children. An immunoblastic lymphoma (a variant of diffuse large B-cell lymphoma) occurring in children. C7706 Childhood Non-Hodgkin Lymphoma C132009 C35574 Childhood Botryoid-Type Embryonal Rhabdomyosarcoma Childhood Botryoid-Type Embryonal Rhabdomyosarcoma Childhood Sarcoma Botryoides A morphologic variant of embryonal rhabdomyosarcoma occurring in children. The tumor arises from organs with a mucosal epithelial surface. It is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules within an abundant myxoid stroma. A histologic subtype of embryonal rhabdomyosarcoma that arises under the morphologic surface of body orifices such as the vagina, bladder, nasopharynx, and biliary tract. C7957 Childhood Embryonal Rhabdomyosarcoma C132009 C6546 Childhood Ovarian Embryonal Carcinoma Childhood Ovarian Embryonal Carcinoma An embryonal carcinoma that arises from the ovary and occurs in children. An embryonal carcinoma that arises from the ovary during childhood. C123847 Childhood Embryonal Carcinoma C68629 Childhood Malignant Ovarian Germ Cell Tumor C132009 C6552 Childhood Testicular Germ Cell Tumor Childhood Testicular Germ Cell Tumor A germ cell tumor that arises from the testis during childhood. A germ cell tumor that arises from the testis during childhood. C114801 Childhood Gonadal Germ Cell Tumor C8591 Testicular Germ Cell Tumor C132009 C82427 Acute Myeloid Leukemia (Megakaryoblastic) with t(1;22)(p13.3;q13.3); RBM15-MKL1 Acute Myeloid Leukemia (Megakaryoblastic) with t(1;22)(p13;q13); RBM15-MKL1 AML (Megakaryoblastic) with t(1;22)(p13;q13); RBM15-MKL1 An acute myeloid leukemia associated with t(1;22)(p13.3;q13.3) resulting in the expression of RBM15-MKL1 fusion protein. It affects infants and children and usually shows megakaryocytic maturation. An acute myeloid leukemia typically showing megakaryocytic maturation and associated with t(1;22)(p13;q13), resulting in the expression of RBM15-MKL1 fusion protein. C7175 Acute Myeloid Leukemia with Recurrent Genetic Abnormalities C132009 C36057 Acute Myeloid Leukemia with t(5;17)(q35;q21) Acute Myeloid Leukemia with t(5;17)(q35;q21) AML with t(5;17)(q35;q21);NPM1-RARA|AML with t(5;17)(q35;q21)|Acute Myeloid Leukemia with t(5;17)(q35;q21);NPM1-RARA Acute myeloid leukemia with the variant RARA t(5;17)(q35;q21) and the expression of NPM1-RARA fusion protein. An acute myeloid leukemia associated with t(5;17)(q35;q21) and NPM1-RARA fusion protein expression. This type of leukemia often has the morphologic features of acute promyelocytic leukemia. There have been rare cases in children reported in the literature. C7175 Acute Myeloid Leukemia with Recurrent Genetic Abnormalities C132009 C7600 Acute Myeloid Leukemia with Myelodysplasia-Related Changes Acute Myeloid Leukemia with Myelodysplasia-Related Changes AML with Myelodysplasia-Related Changes An acute myeloid leukemia with at least 20% blasts in the bone marrow or blood, and either a previous history of myelodysplastic syndrome, multilineage dysplasia or myelodysplastic syndrome-related cytogenetic abnormalities. There is no history of prior cytotoxic therapy for an unrelated disorder, and there is absence of the cytogenetic abnormalities that are present in acute myeloid leukemia with recurrent genetic abnormalities. An acute myeloid leukemia with at least 20% blasts in the bone marrow or blood and one of the following: a previous history of myelodysplastic syndrome; multilineage dysplasia; or myelodysplastic syndrome-related cytogenetic abnormalities. C3171 Acute Myeloid Leukemia C132009 C82423 Acute Myeloid Leukemia with t(6;9) (p23;q34.1); DEK-NUP214 Acute Myeloid Leukemia with t(6;9)(p23;q34); DEK-NUP214 AML with t(6;9)(p23;q34); DEK-NUP214 An acute myeloid leukemia associated with t(6;9)(p23;q34.1) resulting in DEK-NUP214(CAN) fusion protein expression. It is often associated with multilineage dysplasia and basophilia. It affects both children and adults and it usually has an unfavorable clinical outcome. An acute myeloid leukemia associated with t(6;9)(p23;q34), resulting in DEK-NUP214(CAN) fusion protein expression. It is often associated with multilineage dysplasia and basophilia. It is rare in children. C7175 Acute Myeloid Leukemia with Recurrent Genetic Abnormalities C132009 C82433 Acute Myeloid Leukemia with Mutated CEBPA Acute Myeloid Leukemia with Mutated CEBPA AML with Mutated CEBPA An acute myeloid leukemia with mutations of the CEBPA gene. An acute myeloid leukemia (AML) with mutation of the CEBPA gene. It is usually associated with normal karyotype, and most cases meet the criteria for AML with or without maturation. It is seen in 5-8% of children with AML. C7175 Acute Myeloid Leukemia with Recurrent Genetic Abnormalities C132009 C3164 Acute Basophilic Leukemia Acute Basophilic Leukemia A rare acute myeloid leukemia in which the immature cells differentiate towards basophils. A rare acute myeloid leukemia in which the immature cells differentiate towards basophils. C3171 Acute Myeloid Leukemia C132009 C82426 Acute Myeloid Leukemia with inv(3) (q21.3;q26.2) or t(3;3) (q21.3;q26.2); GATA2, MECOM Acute Myeloid Leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2); RPN1-EVI1 AML with inv(3)(q21q26.2) or t(3;3)(q21;q26.2); RPN1-EVI1 An acute myeloid leukemia associated with inv(3)(q21.3q26.2) or t(3;3)(q21.3;q26.2) resulting in the reposition of a distal GATA2 enhancer to activate MECOM expression. It may present de novo or follow a myelodysplastic syndrome. The clinical course is aggressive. An acute myeloid leukemia associated with inv(3)(q21q26.2) or t(3;3)(q21;q26.2), resulting in the expression of RPN1-EVI1 fusion protein. There have been rare cases in children that have been reported in the literature. C7175 Acute Myeloid Leukemia with Recurrent Genetic Abnormalities C132009 C7318 Acute Monoblastic and Monocytic Leukemia Acute Monoblastic and Monocytic Leukemia Acute myeloid leukemia in which 80% or more of the leukemic cells are of monocytic lineage, including monoblasts, promonocytes, and monocytes. Bleeding disorders are common presenting features. Acute myeloid leukemia in which 80% or more of the leukemic cells are of monocytic lineage, including monoblasts, promonocytes, and monocytes. C3171 Acute Myeloid Leukemia C132009 C2870 Aplastic Anemia Aplastic Anemia Anemia resulting from bone marrow failure (aplastic or hypoplastic bone marrow). The production of erythroblasts and red cells is markedly decreased, and it may be associated with decreased production of granulocytes (granulocytopenia) and platelets (thrombocytopenia) as well. Aplastic anemia may be idiopathic or secondary due to bone marrow damage by toxins, radiation, or immunologic factors. A syndrome of bone marrow failure characterized by peripheral pancytopenia and marrow hypoplasia. C2869 Anemia C132009 C71901 Syngeneic Syngeneic Denoting individuals or tissues that are genetically identical. Taken from individuals that are genetically identical. C92722 Qualitative Concept C132009 C15699 T-Cell Depletion Therapy T-Cell Depletion T-Cell Depletion Therapy Treatment to destroy T cells, which play an important role in the immune response. Elimination of T cells from a bone marrow graft or peripheral blood stem cell graft from a donor may reduce the chance of an immune reaction against the recipient's tissues. Treatment to destroy T cells, which play an important role in the immune response. Elimination of T cells from a bone marrow graft or peripheral blood stem cell graft from a donor may reduce the chance of graft-versus-host-disease. C49236 Therapeutic Procedure C132009 C99038 Radial Aplasia-Thrombocytopenia Syndrome Radial Aplasia-Thrombocytopenia Syndrome TAR Syndrome|Thrombocytopenia-Absent Radius Syndrome A rare syndrome characterized by the presence of thrombocytopenia associated with bilateral absence of the radius bone. A rare syndrome characterized by the presence of thrombocytopenia associated with bilateral absence of the radii. C3101 Genetic Disorder C97075 Hereditary Connective Tissue Disorder C132009 C82339 Transient Abnormal Myelopoiesis Transient Abnormal Myelopoiesis Transient Myeloproliferative Disorder A myeloid proliferation occurring in newborns with Down syndrome. It is clinically and morphologically indistinguishable from acute myeloid leukemia and is associated with GATA1 mutations. The blasts display morphologic and immunophenotypic features of megakaryocytic lineage. In the majority of patients the myeloid proliferation undergoes spontaneous remission. A myeloid proliferation occurring in newborns with Down syndrome. It is clinically and morphologically indistinguishable from acute myeloid leukemia and is associated with GATA1 mutations. The blasts display morphologic and immunophenotypic features of megakaryocytic lineage. In the majority of patients, the myeloid proliferation undergoes spontaneous remission. C104003 Congenital Hematological Disorder C132009 C9503 Juvenile Breast Papillomatosis Juvenile Breast Papillomatosis Swiss Cheese Disease A benign, usually solitary, well circumscribed multicystic neoplasm that arises from the breast and typically affects young females. The cysts are lined by papillary proliferations that contain epithelial and myoepithelial layers. In a minority of cases, atypia may be present. A rare, localized, proliferative process in the breast, in which multiple peripheral papillomas are present (in peripheral ducts). It is a marker for familial breast cancer, and is associated with carcinoma in up to 15% of the cases. C3262 Neoplasm C132009 C26721 Hemophilia B Hemophilia B Factor IX Deficiency|Hereditary Factor IX Deficiency Disease|Hereditary Factor IX Deficiency An X-linked inherited bleeding disorder caused by deficiency of the coagulation factor IX. An X-linked recessive deficiency of coagulation factor IX characterized by a tendency to bleed. Hemophilia B occurs in approximately 1 in 20,000 live male births. C3093 Hemophilia C98942 Hereditary Coagulation Factor Deficiency C132009 Christmas Disease C3808 Rhabdoid Tumor Rhabdoid Tumor An aggressive malignant embryonal neoplasm usually occurring during childhood. It is characterized by the presence of large cells with abundant cytoplasm, large eccentric nucleus, and a prominent nucleolus and it is associated with abnormalities of chromosome 22. It can arise from the central nervous system, kidney, and the soft tissues. The prognosis is poor. Extremely aggressive malignancies that generally occur in infants and young children. The most common locations are the kidney and central nervous system (CNS), although they can also arise in most soft tissue sites. Approximately two-thirds of patients will present with advanced-stage disease. Rhabdoid tumors of the kidney tend to metastasize to the CNS and lungs. Rhabdoid tumors are associated with mutations of SMARCB1 (INI-1), a tumor suppressor gene. C9305 Cancer C132009 C123402 Late Relapse of Acute Lymphoblastic Leukemia Late Relapse of Acute Lymphoblastic Leukemia Late Recurrence of ALL|Late Recurrence of Acute Lymphoblastic Leukemia|Late Relapse of ALL Clinical and/or laboratory evidence of reemergence of acute lymphoblastic leukemia greater than or equal to 18 months (extramedullary) or 36 months (marrow) from diagnosis. Clinical and/or laboratory evidence of reemergence of acute lymphoblastic leukemia greater than or equal to 18 months (extramedullary) or 36 months (marrow) from diagnosis. C122607 Late Relapse C132009 C4327 Medulloepithelioma Medulloepithelioma A rare, usually aggressive malignant embryonal neoplasm of the central nervous system occurring in children. It is characterized by the presence of neuroepithelial cells which form papillary, trabecular, or tubular structures and absence of C19MC amplification. Symptoms include headache, nausea, and vomiting. A rare malignant embryonal neoplasm of the central nervous system, occurring in children. It is characterized by the presence of neuroepithelial cells that form papillary, trabecular, or tubular structures. C5961 Childhood Central Nervous System Primitive Neuroectodermal Tumor C132009 C123401 Early Relapse of Acute Lymphoblastic Leukemia Early Relapse of Acute Lymphoblastic Leukemia Early Recurrence of ALL|Early Recurrence of Acute Lymphoblastic Leukemia|Early Relapse of ALL Clinical and/or laboratory evidence of reemergence of acute lymphoblastic leukemia less than 18 months (extramedullary) or 36 months (marrow) from diagnosis. Clinical and/or laboratory evidence of reemergence of acute lymphoblastic leukemia less than 18 months (extramedullary) or 36 months (marrow) from diagnosis. C122606 Early Relapse C132009 C8092 Childhood Alveolar Soft Part Sarcoma Childhood Alveolar Soft Part Sarcoma An alveolar soft part sarcoma occurring in children. The most common site of involvement is the head and neck, particularly the orbit and tongue. An alveolar soft part sarcoma occurring in children; the most common site of involvement is the head and neck, particularly the orbit and tongue. It is associated with t(X;17)(p11.2;q25). C7715 Childhood Soft Tissue Sarcoma C132009 C9234 Childhood Spinal Cord Neoplasm Childhood Spinal Cord Tumor Childhood Spinal Cord Neoplasm A benign or malignant neoplasm affecting the spinal cord during childhood. A benign or malignant neoplasm affecting the spinal cord during childhood. C5132 Childhood Central Nervous System Neoplasm C132009 C68627 Childhood Extracranial Germ Cell Tumor Childhood Extracranial Germ Cell Tumor A childhood benign or malignant germ cell tumor arising from an anatomic site other than the brain. A childhood benign or malignant germ cell tumor arising from an anatomic site other than the brain. C7928 Childhood Germ Cell Tumor C132009 C7940 Childhood Acute Monoblastic and Monocytic Leukemia Childhood Acute Monoblastic and Monocytic Leukemia An acute monoblastic and monocytic leukemia occurring in children. An acute monoblastic and monocytic leukemia occurring during childhood. C7318 Acute Monoblastic and Monocytic Leukemia C132009 C6539 Childhood Testicular Mixed Embryonal Carcinoma and Teratoma Childhood Testicular Mixed Embryonal Carcinoma and Teratoma A malignant testicular mixed germ cell neoplasm that occurs during childhood. It is characterized by the presence of embryonal carcinoma and teratoma components. A malignant testicular mixed germ cell neoplasm that occurs in children. C6542 Childhood Testicular Mixed Germ Cell Tumor C123843 Childhood Testicular Non-Seminomatous Germ Cell Tumor C132009 C7957 Childhood Embryonal Rhabdomyosarcoma Childhood Embryonal Rhabdomyosarcoma A poorly circumscribed morphologic variant of rhabdomyosarcoma occurring in children. The neoplasm is characterized by the presence of primitive skeletal muscle in any stage of myogenesis. A poorly circumscribed morphologic variant of rhabdomyosarcoma that generally arises in the head and neck region or in the genitourinary tract. C7705 Childhood Rhabdomyosarcoma C132009 C4048 Childhood Pilocytic Astrocytoma Childhood Pilocytic Astrocytoma A pilocytic astrocytoma that occurs during childhood. A pilocytic astrocytoma that occurs during childhood. C124275 Childhood Astrocytoma C132009 C7958 Childhood Alveolar Rhabdomyosarcoma Childhood Alveolar Rhabdomyosarcoma An aggressive malignant mesenchymal neoplasm occurring in children. It is characterized by the presence of round cells with myoblastic differentiation, and a fibrovascular stroma resembling an alveolar growth pattern. A histologic subset of rhabdomyosarcoma consisting of a malignant mesenchymal neoplasm occurring in children. It is characterized by the presence of round cells with myoblastic differentiation, and a fibrovascular stroma resembling an alveolar growth pattern. C7705 Childhood Rhabdomyosarcoma C132009 C114774 Childhood Supratentorial Embryonal Tumor, Not Otherwise Specified Childhood Supratentorial Primitive Neuroectodermal Tumor Childhood Supratentorial PNET A supratentorial embryonal tumor, not otherwise specified that occurs in childhood. A supratentorial, primitive, neuroectodermal tumor that occurs during childhood. C5961 Childhood Central Nervous System Primitive Neuroectodermal Tumor C132009 C9048 Childhood Extraocular Retinoblastoma Extraocular Retinoblastoma Childhood Extraocular Retinoblastoma|Childhood Metastatic Retinoblastoma Retinoblastoma during childhood that has spread beyond the eye. Retinoblastoma that has spread beyond the eye. C7541 Retinoblastoma C132009 C9124 Childhood Lymphoblastic Lymphoma Childhood Lymphoblastic Lymphoma A lymphoblastic lymphoma occurring in children. A lymphoma occurring in children primarily derived from precursor T cells and less frequently precursor B cells. C7706 Childhood Non-Hodgkin Lymphoma C132009 C6897 Cystic Partially Differentiated Nephroblastoma Cystic Partially Differentiated Nephroblastoma A variant of Wilms tumor of the kidney characterized by the presence of cystic spaces separated by septa. The septa contain immature epithelial cells, immature stromal cells, and blastema cells. Surgical resection is usually curative. A rare, cystic variant of Wilms tumor wholly comprising cysts in which their thin septa form the only solid portion of the tumor. C40407 Nephroblastoma C132009 C3448 Wiskott-Aldrich Syndrome Wiskott-Aldrich Syndrome A rare, X-linked immunodeficiency syndrome characterized by eczema, thrombocytopenia, and recurrent pyogenic infection. It is seen exclusively in young boys. Typically, IgM levels are low and IgA and IgE levels are elevated. Lymphoreticular malignancies are common. A rare, X-linked immunodeficiency syndrome characterized by eczema, thrombocytopenia, and recurrent pyogenic infection. Typically, IgM levels are low and IgA and IgE levels are elevated. Lymphoreticular malignancies are common. C3266 Hereditary Neoplastic Syndrome C3507 Immune System Disorder C132009 C3070 Granulosa Cell Tumor Granulosa Cell Tumor A slow-growing, malignant tumor, characterized by the presence of granulosa-like cells and Call-Exner bodies, that is almost always found in the ovary. In rare cases, it has also been found in the testicle. There are two types of granulosa cell tumors that can be distinguished under the microscope: the adult and the juvenile. The testicular juvenile granulosa cell tumors are perhaps the most common congenital testicular neoplasms. A slow-growing, malignant tumor that is characterized by the presence of granulosa-like cells, and which is almost always found in the ovary. In rare cases, it has also been found in the testicle. C3794 Sex Cord-Stromal Tumor C132009 C67494 FLT3 Internal Tandem Duplication FLT3 Internal Tandem Duplication FLT3-ITD Mutation A genetic abnormality that arises from duplications of the juxtamembrane portion of the gene and results in constitutive activation of the FLT3 receptor tyrosine kinase protein in early hematopoietic progenitor cells. It is associated with acute myelogenous leukemia where it appears to correlate with a poor prognosis. A genetic abnormality that arises from duplications of the juxtamembrane portion of the gene, and which results in constitutive activation of the FLT3 receptor tyrosine kinase protein in early hematopoietic progenitor cells. It is associated with acute myeloid leukemia. C36292 Laboratory Test Result C132009 C6920 Hand-Schuller-Christian Disease Multifocal Unisystem Langerhans Cell Histiocytosis Classic Multifocal Langerhans Cell Histiocytosis|Hand-Schüller-Christian Disease A multifocal, unisystem form of Langerhans-cell histiocytosis. There is involvement of multiple sites in one organ system, most frequently the bone. Patients are usually young children presenting with multiple destructive bone lesions. A multifocal, unisystem form of Langerhans-cell histiocytosis. There is involvement of multiple sites in one organ system, most frequently the bone. Patients are usually young children presenting with multiple destructive bone lesions. C123396 Childhood Langerhans Cell Histiocytosis without Risk Organ Involvement C132009 C111983 Haploidentical Haploidentical Donor Half-Matched Related Donor|PMRD|Partially-Matched Related Donor A donor who has only one haplotype in common with the recipient. A donor who is related to the transplant recipient, but who is only a partial human leukocyte antigen (HLA) tissue type match. C25190 Person C132009 C28343 Allogenic Allogeneic Taken from different individuals of the same species. Taken from different individuals of the same species. C92722 Qualitative Concept C132009 C36058 Acute Myeloid Leukemia with t(11;17)(q13;q21) Acute Myeloid Leukemia with t(11;17)(q13;q21) APL with t(11;17)(q13;q21); NUMA1-RARA|Acute Promyelocytic Leukemia with t(11;17)(q13;q21); NUMA1-RARA Acute myeloid leukemia with the variant RARA t(11;17)(q13;q21) and the expression of NUMA1-RARA fusion protein. Acute myeloid leukemia with the variant RARA t(11;17)(q13;q21) and the expression of NUMA1-RARA fusion protein. C7175 Acute Myeloid Leukemia with Recurrent Genetic Abnormalities C132009 C43223 Myeloid Leukemia Associated with Down Syndrome Acute Myeloid Leukemia Occurring in Children with Down syndrome AML Occurring in Children with Down Syndrome|Acute Myeloid Leukemia with GATA1 Mutations Acute myeloid leukemia or myelodysplastic syndrome occurring in children with Down syndrome. The acute myeloid leukemia is usually an acute megakaryoblastic leukemia, and is associated with GATA1 gene mutation. Acute myeloid leukemia occurring in children with Down syndrome. During the first 3 years of life, it is usually the megakaryoblastic subtype, and is associated with GATA1 gene mutation. After age 4 this is no longer the case. C9160 Childhood Acute Myeloid Leukemia C132009 C6924 Acute Myeloid Leukemia with Variant MLL Translocations Acute Myeloid Leukemia with Variant MLL Translocations AML with Variant MLL Translocations A term referring to acute myeloid leukemias with rearrangement of the MLL gene which results in translocations with various genes other than the MLLT3 (AF9) gene. A term referring to acute myeloid leukemias with rearrangement of the MLL gene which results in translocations with more than 50 partner genes other than the MLLT3 (AF9) gene. C7175 Acute Myeloid Leukemia with Recurrent Genetic Abnormalities C132009 C38377 Acute Myeloid Leukemia with t(17;17)(q21;q21) Acute Myeloid Leukemia with t(17;17)(q21;q21) APL with t(17;17)(q21;q21); STAT5B-RARA|Acute Promyelocytic Leukemia with t(17;17)(q21;q21); STAT5B-RARA Acute myeloid leukemia with the variant RARA t(17;17)(q21;q21) and the expression of STAT5B-RARA fusion protein. Acute myeloid leukemia with the variant RARA t(17;17)(q21;q21) and the expression of STAT5B-RARA fusion protein. C7175 Acute Myeloid Leukemia with Recurrent Genetic Abnormalities C132009 C122690 Acute Myeloid Leukemia with t(7;12)(q36;p13); HLXB9-ETV6 Acute Myeloid Leukemia with t(7;12)(q36;p13); HLXB9-ETV6 AML with t(7;12)(q36;p13); HLXB9-ETV6|AML with t(7;12)(q36;p13); MNX1-ETV6|Acute Myeloid Leukemia with t(7;12)(q36;p13); MNX1-ETV6 An acute myeloid leukemia in infancy characterized by t(7;12)(q36;p13) and fusion of the homeobox gene HLXB9 (MNX1) with the ETV6 gene. An acute myeloid leukemia in infancy characterized by t(7;12)(q36;p13) and fusion of the homeobox gene HLXB9 with the ETV6 gene. This is seen in 3% of children with AML. C7175 Acute Myeloid Leukemia with Recurrent Genetic Abnormalities C132009 C7322 Testicular Mixed Germ Cell-Sex Cord-Stromal Tumor Testicular Mixed Germ Cell-Sex Cord-Stromal Tumor A tumor that arises from the testis and is characterized by the presence of a neoplastic germ cell component and a neoplastic sex cord-stromal component. A mixed germ cell-sex cord-stromal tumor that occurs in the testis. C5241 Mixed Germ Cell-Sex Cord-Stromal Tumor C132009 C82596 Refractory Cytopenia of Childhood Refractory Cytopenia of Childhood RCC The most common subtype of the myelodysplastic syndromes affecting children. It is characterized by persistent cytopenia with less than 5% blasts in the bone marrow and less than 2% blasts in the peripheral blood. The most common subtype of the myelodysplastic syndromes affecting children. It is characterized by persistent cytopenia with less than 5% blasts in the bone marrow and less than 2% blasts in the peripheral blood. Most cases are associated with a normal karyotype, however, when abnormal, monosomy 7 is the most frequently seen cytogenetic abnormality. C68744 Childhood Myelodysplastic Syndrome C132009 C45327 Hydroa Vacciniforme-Like Lymphoma Hydroa Vacciniforme-Like Lymphoma HV-Like Lymphoma A rare, EBV-positive primary cutaneous T-cell lymphoma, composed of CD8 positive cytotoxic T-lymphocytes. It is considered a variant of nasal type extranodal NK/T-cell lymphoma. It affects children, almost exclusively in Latin America and Asia. Patients present with papulovesicular skin lesions, clinically resembling hydroa vacciniforme, in areas of sun-exposed skin. The prognosis is poor. In contrast to hydroa vacciniforme (HV), HV-like lymphoma is not induced by sun exposure and the lesions can occur in both sun-exposed and covered body areas. It affects children, almost exclusively in Latin America and Asia. C3211 Non-Hodgkin Lymphoma C132009 C34376 Hemolytic Anemia Hemolytic Anemia Anemia resulting from the premature destruction of the peripheral blood red cells. It may be congenital or it may be caused by infections, medications, or malignancies. Anemia resulting from the premature destruction of the erythrocytes. C2869 Anemia C131656 Anemia due to Increased Destruction C132009 C122623 KMT2A Gene Rearrangement MLL Gene Rearrangement A molecular abnormality indicating rearrangement of the KMT2A gene. A molecular abnormality indicating rearrangement of the MLL gene. MLL gene rearrangements occur in approximately 20% of children with acute myeloid leukemia. C36292 Laboratory Test Result C132009 C5241 Mixed Germ Cell-Sex Cord-Stromal Tumor Mixed Germ Cell-Sex Cord-Stromal Tumor A biphasic neoplasm that arises from the ovary or the testis. It is characterized by the presence of neoplastic germ cells and neoplastic sex cord-stromal cells. It includes the gonadoblastoma and mixed germ cell-sex cord stromal tumor, unclassifiable. A biphasic tumor that arises from the ovary or the testis. It is characterized by the presence of neoplastic germ cells and neoplastic sex cord-stromal cells; examples include the gonadoblastoma and mixed germ cell-sex cord stromal tumor, unclassifiable. C3262 Neoplasm C132009 C3160 Letterer-Siwe Disease Multifocal Multisystem Langerhans Cell Histiocytosis Acute Disseminated Langerhans Cell Histiocytosis|Letterer-Siwe Disease A multifocal, multisystem form of Langerhans-cell histiocytosis. There is involvement of multiple organ systems including the bones, skin, liver, spleen, and lymph nodes. Patients are usually infants presenting with fever, hepatosplenomegaly, lymphadenopathy, bone and skin lesions, and pancytopenia. A multifocal, multisystem form of Langerhans-cell histiocytosis. There is involvement of multiple organ systems that may include the bones, skin, liver, spleen, and lymph nodes. Patients are usually infants presenting with fever, hepatosplenomegaly, lymphadenopathy, bone and skin lesions, and pancytopenia. C123395 Childhood Langerhans Cell Histiocytosis with Risk Organ Involvement C3107 Langerhans Cell Histiocytosis C132009 C9476 Desmoplastic Infantile Astrocytoma Desmoplastic Infantile Astrocytoma A WHO grade I large cystic tumor that occurs almost exclusively in infants, with a prominent desmoplastic stroma having a neuroepithelial population consisting mainly of neoplastic astrocytes. It involves the superficial cerebral cortex and leptomeninges, and often attaches to the dura. Although clinically it presents as large tumor, it generally has a good prognosis following surgical resection. (Adapted from WHO) A WHO grade I large cystic tumor that occurs almost exclusively in infants, and which involves the superficial cerebral cortex and leptomeninges. C124275 Childhood Astrocytoma C132009 C7321 Ovarian Mixed Germ Cell-Sex Cord-Stromal Tumor Ovarian Mixed Germ Cell-Sex Cord-Stromal Tumor A neoplasm that arises from the ovary and is characterized by the presence of germ cell and sex cord-stromal tissues that are intimately admixed. If there is no malignant germ cell component present, the clinical course is benign. A mixed germ cell-sex cord-stromal tumor that occurs in the ovary. C5241 Mixed Germ Cell-Sex Cord-Stromal Tumor C132009 C3997 Childhood Medulloblastoma Childhood Medulloblastoma A medulloblastoma occurring in children. A medulloblastoma occurring in children. C114833 Childhood Central Nervous System Embryonal Neoplasm C3222 Medulloblastoma C132009 C8089 Childhood Synovial Sarcoma Childhood Synovial Sarcoma A synovial sarcoma occurring in childhood. A synovial sarcoma occurring during childhood. C7715 Childhood Soft Tissue Sarcoma C132009 C27376 Childhood Extraskeletal Osteosarcoma Childhood Extraskeletal Osteosarcoma An osteosarcoma arising from the soft tissue, and occurring during childhood. An osteosarcoma arising in soft tissues, and occurring during childhood. C6585 Childhood Osteosarcoma C132009 C115196 Childhood Pineal Parenchymal Cell Neoplasm Childhood Pineal Parenchymal Cell Neoplasm Childhood Pineocytic Neoplasm|Childhood Pineocytic Tumor A pineal parenchymal cell neoplasm that occurs during childhood. A pineal parenchymal cell neoplasm that occurs during childhood. C35876 Childhood Intracranial Neoplasm C132009 C122625 Childhood Acute Myeloid Leukemia Not Otherwise Specified Childhood Acute Myeloid Leukemia, Not Otherwise Specified Childhood AML, NOS|Childhood Acute Myeloid Leukemia, NOC|Childhood Acute Myeloid Leukemia, NOS|Childhood Acute Myeloid Leukemia, Not Otherwise Characterized Acute myeloid leukemias that occur in childhood and do not fulfill the criteria for inclusion in the group of acute myeloid leukemias which have recurrent genetic abnormalities or myelodysplastic changes, or are therapy-related. This category includes entities classified according to the French-American-British classification scheme. Acute myeloid leukemias that occur during childhood and do not fulfill the criteria for inclusion in the group of acute myeloid leukemias that have recurrent genetic abnormalities, myelodysplastic changes, or are therapy-related. This category includes entities classified according to the French-American-British classification scheme. C9160 Childhood Acute Myeloid Leukemia C132009 C27372 Childhood Desmoplastic Small Round Cell Tumor Childhood Desmoplastic Small Round Cell Tumor A desmoplastic small round cell tumor occurring in children. A desmoplastic small round cell tumor occurring in children. C7715 Childhood Soft Tissue Sarcoma C132009 C6542 Childhood Testicular Mixed Germ Cell Tumor Childhood Testicular Mixed Germ Cell Tumor A malignant mixed germ cell neoplasm that arises from the testis during childhood. A mixed germ cell tumor that arises from the testis during childhood. C68628 Childhood Malignant Testicular Germ Cell Tumor C123848 Childhood Mixed Germ Cell Tumor C132009 C8091 Childhood Liposarcoma Childhood Liposarcoma A rare malignant neoplasm arising from adipocytes, that occurs in children. The tumor maybe one of several histologic types including well-differentiated, dedifferentiated, myxoid/round cell, and pleomorphic liposarcoma. A liposarcoma occurring during childhood. C9118 Sarcoma C132009 C8093 Childhood Leiomyosarcoma Childhood Leiomyosarcoma An aggressive malignant smooth muscle neoplasm, occurring in children. It is characterized by a proliferation of neoplastic spindle cells. A leiomyosarcoma occurring during childhood. C7715 Childhood Soft Tissue Sarcoma C132009 C68744 Childhood Myelodysplastic Syndrome Childhood Myelodysplastic Syndrome Childhood MDS An uncommon hematologic malignancy occurring during childhood. Many of the morphologic, immunophenotypic, and genetic changes seen in adult myelodysplastic syndromes are also observed in the childhood variants of the disease. Children present with neutropenia and thrombocytopenia more often than adults, and bone marrow hypocellularity is more often seen in children than adults. An uncommon hematologic malignancy occurring during childhood. Children present with neutropenia and thrombocytopenia more often than adults, and bone marrow hypocellularity is more often seen in children than adults. Childhood MDS includes persistent cytopenia with less than 20% blasts. C3247 Myelodysplastic Syndrome C132009 C4045 Childhood Oligodendroglioma Childhood Oligodendroglioma An oligodendroglioma that arises from the central nervous system and occurs during childhood. An oligodendroglioma that occurs during childhood. C5132 Childhood Central Nervous System Neoplasm C132009 C5318 Childhood Meningeal Melanoma Childhood Leptomeningeal Melanoma A melanoma that arises from leptomeningeal melanocytes and occurs in childhood. A melanoma that arises from leptomeningeal melanocytes during childhood. C131506 Childhood Melanoma C5448 Malignant Childhood Central Nervous System Neoplasm C132009 C8088 Childhood Fibrosarcoma Childhood Fibrosarcoma A malignant neoplasm arising from the deep soft tissues in children. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern. A fibrosarcoma occurring during childhood. C3043 Fibrosarcoma C132009 C6540 Childhood Testicular Teratoma Childhood Testicular Teratoma A teratoma that arises from the testis during childhood. A mature or immature teratoma that arises from the testis during childhood. C68626 Childhood Teratoma C123843 Childhood Testicular Non-Seminomatous Germ Cell Tumor C132009 C7705 Childhood Rhabdomyosarcoma Childhood Rhabdomyosarcoma An aggressive malignant mesenchymal neoplasm arising from skeletal muscle in children. Only a small percentage of tumors arise in the skeletal muscle of the extremities. The majority arise in other anatomical sites. An aggressive, malignant, mesenchymal neoplasm arising from skeletal muscle in children; the most common sites are the head, the genitourinary tract, and the extremities. C7715 Childhood Soft Tissue Sarcoma C3359 Rhabdomyosarcoma C132009 C7534 Childhood Visual Pathway Astrocytoma Childhood Visual Pathway Astrocytoma An astrocytoma that arises from the visual pathway and occurs during childhood. An astrocytoma affecting the optic tract that occurs during childhood. C124275 Childhood Astrocytoma C7535 Childhood Visual Pathway Glioma C132009 C8264 Childhood Meningioma Childhood Meningioma A meningioma that occurs during childhood. A meningioma that occurs during childhood. C5132 Childhood Central Nervous System Neoplasm C3230 Meningioma C132009 C8095 Childhood Epithelioid Sarcoma Childhood Epithelioid Sarcoma An epithelioid sarcoma occurring in childhood. An epithelioid sarcoma occurring during childhood. C7715 Childhood Soft Tissue Sarcoma C132009 C123907 Childhood Malignant Kidney Neoplasm Childhood Malignant Kidney Tumor Childhood Malignant Kidney Neoplasm|Childhood Malignant Renal Neoplasm|Childhood Malignant Renal Tumor A malignant neoplasm that affects the kidney and occurs in childhood. A malignant renal tumor occurring during childhood. C9305 Cancer C132009 C14151 Unresectable No Resection Unresectable Not capable of being removed by surgery. Surgical removal of a lesion was not undertaken. C3367 Finding C132009 C98933 Glucose-6-Phosphate Dehydrogenase Deficiency Glucose-6-Phosphate Dehydrogenase Deficiency G-6-PD Variant Enzyme Deficiency Anemia|G6PD Deficiency|G6PD An X-linked recessive inherited disorder caused by mutations in the G6PD gene. It is characterized by the absence or presence of very low levels of glucose-6-phosphate dehydrogenase. Patients develop hemolytic anemia usually in response to infection or exposure to drugs. An X-linked recessive disorder caused by mutations in the G6PD gene. It is characterized by subnormal activity of glucose-6-phosphate dehydrogenase. Patients develop hemolytic anemia, usually in response to infection or exposure to food, drugs, or other substances. C34384 Anemia due to Disorder of Glutathione Metabolism C131630 Anemia due to Erythrocyte Enzyme Disorder C132009 C6586 Extrarenal Rhabdoid Tumor Extrarenal Rhabdoid Tumor A rhabdoid tumor which arises in the soft tissues. It occurs in infants and children and may be associated with loss of chromosome 22. It is characterized by the presence of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm. A rhabdoid tumor that arises outside of the central nervous system or kidney. C3808 Rhabdoid Tumor C132009 C7175 Acute Myeloid Leukemia with Recurrent Genetic Abnormalities Acute Myeloid Leukemia with Recurrent Genetic Abnormalities AML with Recurrent Genetic Abnormalities A group of acute myeloid leukemias characterized by recurrent genetic abnormalities, mainly balanced translocations. (WHO, 2001) A group of acute myeloid leukemias characterized by recurrent genetic abnormalities, mainly balanced translocations. (WHO, 2001) C3171 Acute Myeloid Leukemia C132009 C4673 Acute Biphenotypic Leukemia Acute Biphenotypic Leukemia An acute leukemia of ambiguous lineage characterized by blasts which coexpress myeloid and T or B lineage antigens or concurrent B and T lineage antigens. (WHO, 2001) An acute leukemia characterized by a single population of blasts that coexpress myeloid and lymphoid antigens. C82179 Mixed Phenotype Acute Leukemia C132009 C2871 Pernicious Anemia Pernicious Anemia Intrinsic Factor Deficiency Megaloblastic anemia caused by vitamin B-12 deficiency due to impaired absorption. The impaired absorption of vitamin B-12 is secondary to atrophic gastritis and loss of gastric parietal cells. Megaloblastic anemia caused by vitamin B12 deficiency due to insufficient production of intrinsic factor by gastric parietal cells, which is essential for adequate absorption of vitamin B12. It is classically characterized by weakness and fatigue, glossitis, and paresthesias. C34382 Megaloblastic Anemia C132009 C80297 Pediatric Follicular Lymphoma Childhood Follicular Lymphoma Pediatric Follicular Lymphoma A variant of follicular lymphoma often involving cervical or other peripheral lymph nodes and the Waldeyer ring. It is frequently localized, and lacks BCL-2 protein expression and 14;18 translocation. It is seen in the pediatric population. The prognosis is usually favorable. A variant of follicular lymphoma seen in children and adolescents that lacks the translocation of t(14;18)(q32;q21) involving BCL2, which is generally found in adults. C7706 Childhood Non-Hodgkin Lymphoma C132009 C80299 Pediatric Nodal Marginal Zone Lymphoma Childhood Nodal Marginal Zone Lymphoma Pediatric Nodal Marginal Zone Lymphoma A nodal marginal zone lymphoma affecting the pediatric population, predominantly males. It presents with asymptomatic and localized (mainly head and neck) disease in the vast majority of cases. Morphologically there is often progressive transformation of the germinal centers. The prognosis is excellent. A nodal marginal zone lymphoma affecting the pediatric population, predominantly males. It presents with asymptomatic and localized (mainly head and neck) disease in the vast majority of cases. C7706 Childhood Non-Hodgkin Lymphoma C132009 C27081 Juvenile Pilocytic Astrocytoma Juvenile Pilocytic Astrocytoma A pilocytic astrocytoma that occurs during adolescence. A pilocytic astrocytoma that occurs during adolescence. C4048 Childhood Pilocytic Astrocytoma C132009 C4207 Juvenile Type Granulosa Cell Tumor Juvenile Type Granulosa Cell Tumor A granulosa cell tumor occurring in the ovary and testis. In females it occurs predominantly in the first three decades of life and presents unilaterally as stage I disease in the vast majority of cases. It is characterized by the presence of granulosa cells forming macrofollicular structures. The majority of cases have a good prognosis. In males it represents the most frequent congenital testicular neoplasm and the vast majority of cases occur in the perinatal period. It presents as a scrotal or abdominal mass and it more often affects the left testis. Approximately 20% of the patients have ambiguous external genitalia. It is characterized by the presence of cystic spaces lined by granulosa cells and cells resembling theca cells. Metastases have not been reported. A rare type of tumor derived from the granulosa cells in the ovary or testis. Ninety percent of girls with the tumor will have low stage disease, which is curable with surgery alone. In males, it usually presents in infancy (median age, 6 days), which is treated with surgery alone. C3070 Granulosa Cell Tumor C132009 C99111 Heparin Induced Thrombocytopenia Heparin-Induced Thrombocytopenia HIT|Heparin Induced Thrombocytopenia A life-threatening complication of heparin therapy. It results in immune-mediated thrombocytopenia and, in 25-50 percent of the patients, thrombotic complications. A complication of heparin therapy. It results in immune-mediated thrombocytopenia and, in 25-50 percent of the patients, thrombotic complications. C99110 Drug-Induced Thrombocytopenia C3991 Immune Thrombocytopenia C132009 C131682 Sickle Cell-SS Disease Sickle Cell-SS Disease Hemoglobin SS Disease|Sickle Cell (SS only) A variant of sickle cell disease due to homozygosity of the E6V mutation, amino acid substitution of valine for glutamic acid in the sixth position of the beta chain, resulting in the production of hemoglobin S from both alleles. A variant of sickle cell disease due to homozygosity of the E6V mutation, amino acid substitution of valine for glutamic acid in the sixth position of the beta chain, resulting in the production of hemoglobin S from both alleles. C34383 Sickle Cell Disease C132009 C98835 Sickle Beta 0 Thalassemia Sickle Beta 0 Thalassemia Sickle Beta Zero Thalassemia A form of sickle cell thalassemia characterized by the absence of hemoglobin A. Patients usually have severe anemia identical to that seen in sickle cell disease. A form of sickle cell thalassemia characterized by the presence of hemoglobin S and the absence of hemoglobin A. Patients usually have a more severe clinical phenotype, identical to that seen in sickle cell disease. C61237 Sickle Cell-Thalassemia C132009 C95539 Sickle Beta Thalassemia Sickle Beta Thalassemia Hb S-Beta Thalassemia|S-Beta Thalassemia|Sickle Cell-Beta-Thalassemia A heterozygous state in which a person has a hemoglobin S allele along with a beta-thalassemia allele. The severity of the condition is determined to a large extent by the quantity of normal hemoglobin produced by the beta-thalassemia gene. A heterozygous state in which a person has a hemoglobin S allele along with a beta-thalassemia allele. The severity of the condition is determined to a large extent by the quantity of normal beta-globin produced by the beta-thalassemia gene. C61237 Sickle Cell-Thalassemia C35069 Thalassemia C132009 C39976 Sertoli Cell Tumor Sertoli Cell Tumor A sex cord-stromal tumor of the testis or the ovary. It is characterized by the presence of Sertoli cells forming tubules. Leydig cells are rare or absent. It may be associated with Peutz-Jeghers syndrome. In males, the presenting symptom is a slow growing testicular mass. Most cases follow a benign clinical course. In females it may present with estrogenic or androgenic manifestations. The vast majority of cases have a benign clinical course. A sex cord-stromal tumor of the testis or the ovary. It is characterized by the presence of Sertoli cells forming tubules. Leydig cells are rare or absent. It may be associated with Peutz-Jeghers syndrome. C3794 Sex Cord-Stromal Tumor C132009 C82179 Mixed Phenotype Acute Leukemia Mixed Phenotype Acute Leukemia MPAL An acute leukemia of ambiguous lineage. It is characterized by the presence of either separate populations of blasts of more than one lineage, or one population of blasts co-expressing markers of more than one lineage. An acute leukemia of ambiguous lineage. It is characterized by the presence of either separate populations of blasts of more than one lineage or one population of blasts co-expressing markers of more than one lineage. C7464 Acute Leukemia of Ambiguous Lineage C132009 C81772 Disseminated Juvenile Xanthogranuloma Disseminated Juvenile Xanthogranuloma Disseminated JXG Juvenile xanthogranuloma disseminated to extracutaneous sites including mucosal surfaces, lung, central nervous system, pituitary, lymph nodes, eye, liver, and bone marrow. It is characterized by the presence of lipid-laden, foamy histiocytes and Touton-type giant cells forming nodules in the affected anatomic sites. Juvenile xanthogranuloma disseminated to extracutaneous sites, including mucosal surfaces, lung, central nervous system, pituitary, lymph nodes, eye, liver, and bone marrow. C3451 Juvenile Xanthogranuloma C132009 C4738 Desmoplastic Infantile Ganglioglioma Desmoplastic Infantile Ganglioglioma A WHO grade I large cystic tumor that occurs almost exclusively in infants, with a prominent desmoplastic stroma having a neuroepithelial population of neoplastic astrocytes together with a variable neuronal component. It involves the superficial cerebral cortex and leptomeninges, and often attaches to the dura. Although clinically it presents as a large tumor, it generally has a good prognosis following surgical resection. (Adapted from WHO) A WHO grade I large cystic tumor that occurs almost exclusively in infants. It involves the superficial cerebral cortex and leptomeninges, and often attaches to the dura. C27362 Childhood Ganglioglioma C132009 C68628 Childhood Malignant Testicular Germ Cell Tumor Childhood Malignant Testicular Germ Cell Tumor A malignant germ cell tumor in children arising from the testis. It includes the embryonal carcinoma, yolk sac tumor, choriocarcinoma, and mixed germ cell tumors. A malignant germ cell tumor in children arising from the testis. C6552 Childhood Testicular Germ Cell Tumor C132009 C68634 Childhood Atypical Teratoid/Rhabdoid Tumor Childhood Atypical Teratoid/Rhabdoid Tumor An atypical teratoid/rhabdoid tumor occurring in children. A rare, clinically aggressive tumor of the CNS that most often affects children aged 3 years and younger, but that can occur in older children and adults. C5132 Childhood Central Nervous System Neoplasm C132009 C27406 Childhood Central Nervous System Germinoma Childhood Central Nervous System Germinoma A germinoma arising from the central nervous system during childhood. A germinoma that arises from the central nervous system during childhood. C68632 Childhood Extragonadal Malignant Germ Cell Tumor C123838 Childhood Germinomatous Germ Cell Tumor C132009 C114775 Childhood Central Nervous System Neuroblastoma Childhood Cerebral Neuroblastoma A neuroblastoma that arises from the cerebral hemispheres and occurs during childhood. A neuroblastoma that arises from the cerebral hemispheres during childhood. C124270 Childhood Neuroblastoma C132009 C68629 Childhood Malignant Ovarian Germ Cell Tumor Childhood Malignant Ovarian Germ Cell Tumor A malignant germ cell tumor in children arising from the ovary. It includes the dysgerminoma, yolk sac tumor, choriocarcinoma, embryonal carcinoma and immature teratoma. A malignant germ cell tumor in children arising from the ovary. C8588 Childhood Ovarian Germ Cell Tumor C132009 C68632 Childhood Extragonadal Malignant Germ Cell Tumor Childhood Extragonadal Malignant Germ Cell Tumor A malignant germ cell tumor in children arising from an anatomic site other than the testis or ovary. A malignant germ cell tumor that arises from an anatomic site other than the testis or ovary during childhood. C3918 Extragonadal Germ Cell Tumor C132009 C6585 Childhood Osteosarcoma Childhood Osteosarcoma Childhood Osteogenic Sarcoma An osteosarcoma occurring in childhood. An osteosarcoma occurring during childhood. C9145 Osteosarcoma C132009 C27730 Childhood Kidney Wilms Tumor Childhood Wilms Tumor A Wilms tumor of the kidney which occurs in children. A Wilms tumor that occurs in children. C123907 Childhood Malignant Kidney Tumor C3267 Wilms Tumor C132009 C68692 Childhood Nasal Type Extranodal NK/T-Cell Lymphoma Childhood Nasal Type Extranodal NK/T-Cell Lymphoma A nasal type extranodal NK/T-cell lymphoma occurring in childhood. A nasal type of non-anaplastic peripheral NK/T cell lymphoma occurring during childhood. C7706 Childhood Non-Hodgkin Lymphoma C132009 C68626 Childhood Teratoma Childhood Teratoma A mature or immature teratoma occurring in children. A mature or immature teratoma occurring in children. C123841 Childhood Non-Germinomatous Germ Cell Tumor C3403 Teratoma C132009 C7209 Childhood B Lymphoblastic Lymphoma Childhood B Lymphoblastic Lymphoma A B lymphoblastic lymphoma that occurs during childhood. A B lymphoblastic lymphoma that occurs during childhood. C9124 Childhood Lymphoblastic Lymphoma C132009 C9047 Childhood Intraocular Retinoblastoma Intraocular Retinoblastoma Childhood Intraocular Retinoblastoma Retinoblastoma during childhood that has not spread beyond the eye. Retinoblastoma localized to the eye. It may be confined to the retina or may extend to involve other structures such as the choroid, ciliary body, anterior chamber, and optic nerve head. C7541 Retinoblastoma C132009 C27403 Childhood Central Nervous System Mixed Germ Cell Tumor Childhood Central Nervous System Mixed Germ Cell Tumor A mixed germ cell tumor that arises from the central nervous system and occurs during childhood. A mixed germ cell tumor that arises from the central nervous system during childhood. C6205 Childhood Central Nervous System Germ Cell Tumor C68632 Childhood Extragonadal Malignant Germ Cell Tumor C132009 C115203 Childhood Embryonal Tumor with Multilayered Rosettes, C19MC-Altered Childhood Ependymoblastoma An embryonal tumor with multilayered rosettes, C19MC-altered that occurs during childhood. An ependymoblastoma that occurs during childhood. C5961 Childhood Central Nervous System Primitive Neuroectodermal Tumor C132009 C123394 Childhood Extranodal Marginal Zone Lymphoma of Mucosa-Associated Lymphoid Tissue Childhood Extranodal Marginal Zone Lymphoma of Mucosa-Associated Lymphoid Tissue Childhood Extranodal Marginal Zone Lymphoma of MALT|Childhood MALToma An extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue that occurs during childhood. An extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue that occurs during childhood. C7706 Childhood Non-Hodgkin Lymphoma C132009 C42080 Childhood Choroid Plexus Neoplasm Childhood Choroid Plexus Neoplasm A neoplasm that arises from the choroid plexus in the brain and occurs during childhood. A neoplasm that arises from the choroid plexus during childhood. C5132 Childhood Central Nervous System Neoplasm C132009 C5637 Childhood Mature T- and NK-Cell Lymphoma Childhood Mature T- and NK-Cell Lymphoma A mature T- and NK-cell non-Hodgkin lymphoma that occurs during childhood. A mature T- and NK-cell non-Hodgkin lymphoma that occurs during childhood. C7706 Childhood Non-Hodgkin Lymphoma C132009 C6550 Childhood Ovarian Dysgerminoma Childhood Dysgerminoma Childhood Ovarian Germinomatous Germ Cell Tumor A dysgerminoma that arises from the ovary and occurs in children. A dysgerminoma that occurs during childhood. C123838 Childhood Germinomatous Germ Cell Tumor C68629 Childhood Malignant Ovarian Germ Cell Tumor C132009 C7616 Childhood Diffuse Large B -Cell Lymphoma Childhood Diffuse Large B-Cell Lymphoma Childhood DLBCL A diffuse large B-cell lymphoma that occurs during childhood. A diffuse large B-cell lymphoma that occurs during childhood. C7706 Childhood Non-Hodgkin Lymphoma C132009 C115221 Bleeding Diathesis Bleeding Disorder Bleeding Diathesis A coagulation disorder characterized by a tendency for excessive bleeding. A coagulation disorder characterized by a tendency for excessive bleeding. C2902 Coagulation Disorder C132009 C115160 Blastic Phase Blast Crisis Blast Phase|Blastic Phase Sudden increase of the number of blasts in the bone marrow and/or peripheral blood in a patient with a history of chronic leukemia. Sudden increase of the number of blasts in the bone marrow and/or peripheral blood in a patient with a history of chronic myelogenous leukemia. C36289 Hematopoietic System Finding C132009 C3754 Gonadoblastoma Gonadoblastoma A mixed germ cell/sex cord-stromal tumor characterized by the presence of large germ cells which resemble seminoma cells and small cells which resemble Sertoli or granulosa cells. It occurs in the testis and the ovary and is identified in children and adults. It is often associated with gonadal dysgenesis and abnormal karyotype. A mixed germ cell/sex cord-stromal tumor characterized by the presence of large germ cells that resemble seminoma cells and small cells that resemble Sertoli or granulosa cells. It occurs in the testis and the ovary, and is identified in children and adults. It is often associated with gonadal dysgenesis and abnormal karyotype. C5241 Mixed Germ Cell-Sex Cord-Stromal Tumor C132009 C26770 Hereditary Factor XII Deficiency Hereditary Factor XII Deficiency A rare autosomal recessive inherited bleeding disorder caused by deficiency of coagulation factor XII. It may be asymptomatic or manifest with bleeding. An autosomal recessive, inherited coagulation disorder characterized by the partial or complete absence of factor XII activity in the blood. C98942 Hereditary Coagulation Factor Deficiency C132009 C26799 Hereditary Factor II Deficiency Hereditary Factor II Deficiency A very rare autosomal recessive inherited blood coagulation disorder characterized by deficiency of prothrombin, resulting in bleeding. An autosomal recessive, inherited coagulation disorder characterized by the partial or complete absence of prothrombin (factor II) activity in the blood. C98942 Hereditary Coagulation Factor Deficiency C132009 C34378 Autoimmune Hemolytic Anemia Autoimmune Hemolytic Anemia An acquired anemia caused by destruction of the red blood cells by autoantibodies. Causes include autoimmune disorders, lymphoproliferative disorders, and infections. An acquired anemia caused by destruction of the erythrocytes by autoantibodies. C99382 Autoimmune Cytopenia C91782 Immune Hemolytic Anemia C132009 C28000 Autologous Autologous Taken from an individual's own tissues, cells, or DNA. Taken from an individual's own tissues, cells, or DNA. C92722 Qualitative Concept C132009 C35659 Anemia due to Chronic Disorder Anemia of Chronic Disease Anemia of Chronic Illness|Anemia of Chronic Inflammation Anemia due to a disorder that is persistent or long-standing in nature. A form of anemia, usually normocytic, resulting from chronic infection, immune activation, or neoplastic process. The mechanism is generally decreased iron availability in the circulation, but may be secondary to faulty/deficient erythropoiesis as well. C2869 Anemia C132009 C36055 Acute Myeloid Leukemia with a Variant RARA Translocation Acute Myeloid Leukemia with a Variant RARA Translocation AML with a Variant RARA Translocation A term referring to acute myeloid leukemias which show variant translocations involving the RARA gene. The variant fusion partners include NUMA1, ZBTB16, STAT5B, and NPM1. These leukemias often have the morphologic features of acute promyelocytic leukemia. A term referring to acute myeloid leukemias which show variant translocations involving the RARA gene. The variant fusion partners include NUMA1, ZBTB16 (PLZF), STAT5B, and NPM1. These leukemias often have the morphologic features of acute promyelocytic leukemia. C7175 Acute Myeloid Leukemia with Recurrent Genetic Abnormalities C132009 C70548 Acquired Pure Red Cell Aplasia Acquired Pure Red Cell Aplasia A disease characterized by normocytic, normochromic anemia, low hematocrit, reticulocytopenia and selective erythroid hypoplasia. It can occur as a chronic or acute form; the former is predominantly seen in adults and the latter in children. Pathogenesis involves immune dysfunction with antibodies directed against erythroid precursor cells or erythropoietin, or due to T-cell mediated suppression of erythropoiesis. A disease characterized by normocytic, normochromic anemia, low hematocrit, reticulocytopenia, and selective erythroid hypoplasia. It can occur as a chronic or acute form; the former is predominantly seen in adults, and the latter in children. C34974 Pure Red Cell Aplasia C132009 C6923 Acute Bilineal Leukemia Acute Bilineal Leukemia An acute leukemia of ambiguous lineage in which there is a dual population of blasts with each population expressing markers of a distinct lineage (myeloid and lymphoid or B-and T-lymphocyte). (WHO, 2001) -- 2003 An acute leukemia in which there is a dual population of blasts with each population expressing markers of a distinct lineage (myeloid and lymphoid or B-and T-lymphocyte). C82179 Mixed Phenotype Acute Leukemia C132009 C34375 Beta Thalassemia Beta Thalassemia An autosomal recessive disorder that affects the production of beta polypeptide chains which are necessary for the hemoglobin synthesis. Anemia and failure to thrive are characteristic features. An autosomal recessive disorder that affects the production of beta polypeptide chains that are necessary for hemoglobin synthesis. Anemia and failure to thrive are characteristic features. C35069 Thalassemia C132009 C80374 Systemic EBV-Positive T-Cell Lymphoproliferative Disease of Childhood Systemic EBV-Positive T-Cell Lymphoproliferative Disease of Childhood An aggressive and life-threatening, EBV-positive T-cell lymphoproliferative disorder affecting children. It is more prevalent in Taiwan and Japan. Clinically, it presents with acute onset of fever and generalized malaise, followed by hepatosplenomegaly and liver failure. Morphologically it is characterized by the presence of infiltrating T-lymphocytes which are usually small and erythrophagocytosis. Most patients have a fulminant clinical course. An aggressive, life-threatening, EBV-positive T-cell lymphoproliferative disorder affecting children. C26323 Hematologic Disorder C132009 C3991 Thrombocytopenia Due to Immune Destruction Immune Thrombocytopenia Thrombocytopenia Due to Immune Destruction A general class of thrombocytopenia due to immune destruction of platelets. It includes idiopathic thrombocytopenic purpura, as well as immune destruction-related thrombocytopenias due to other reasons (e.g., AIDS, transfusion, lupus erythematosus). A general class of thrombocytopenia due to immune destruction of platelets. C131634 Platelet Abnormality C3408 Thrombocytopenia C132009 C116471 Reduced-Intensity Transplant Conditioning Procedure Non-Myeloablative Conditioning Reduced Intensity Conditioning A method of preparation for stem cell transplant that uses less than standard doses of chemotherapy and radiation prior to the transfer of stem cells, with the goal of providing protection against graft vs. host disease, while simultaneously minimizing the toxic effects of the conditioning treatment. A conditioning regimen intended to produce enough immunosuppression without eradicating host hematopoietic stem cells to allow engraftment of allogeneic hematopoietic stem cells via transplantation. C49236 Therapeutic Procedure C132009 C3451 Juvenile Xanthogranuloma Juvenile Xanthogranuloma JXG A benign histiocytic tumor that occurs during childhood; it is distinct from Langerhans cell histiocytosis. It is characterized by the presence of lipid-laden, foamy histiocytes and Touton-type giant cells in the dermis. The lesions usually develop during infancy. They consist of cutaneous papules and nodules (most often in the head and neck). It is sometimes associated with deep soft tissues nodules. A macrophage disorder that occurs during childhood; it is distinct from Langerhans cell histiocytosis, and is characterized by cutaneous papules and nodules (most often in the head and neck). C26323 Hematologic Disorder C132009 C122621 Infant Acute Lymphoblastic Leukemia without KMT2A Gene Rearrangement Infant Acute Lymphoblastic Leukemia without MLL Gene Rearrangement Infant ALL without MLL Rearrangement An acute lymphoblastic leukemia without rearrangement of the KMT2A gene that occurs in infancy. Acute lymphoblastic leukemia (ALL) occurring in children less than 1 year of age; leukemic blasts show germline MLL gene configuration. C122614 Infant Acute Lymphoblastic Leukemia C132009 C91782 Immune Hemolytic Anemia Immune Hemolytic Anemia An acquired anemia resulting from immune-mediated destruction of the red blood cells. Causes include autoimmune disorders, blood transfusions, and drugs. An acquired anemia resulting from immune-mediated destruction of the erythrocytes. C34377 Acquired Hemolytic Anemia C131656 Anemia due to Increased Destruction C132009 C7093 Hepatoblastoma with Pure Fetal Epithelial Differentiation Hepatoblastoma with Pure Fetal Epithelial Differentiation A hepatoblastoma composed of small cells resembling the fetal hepatocytes, forming thin trabeculae. A hepatoblastoma comprising small cells resembling the fetal hepatocytes, forming thin trabeculae. C3728 Hepatoblastoma C132009 C3093 Hemophilia Hemophilia A deficiency or abnormality of a blood coagulation factor characterized by the tendency to hemorrhage. Hemophilia is typically a hereditary disorder but, rarely, may be acquired. Inherited coagulation factor-deficient hemophilias include hemophilia A or classic hemophilia (hereditary factor VIII deficiency) hemophilia B or Christmas disease (hereditary factor IX deficiency), and hemophilia C (hereditary factor XI deficiency). Factor VIII inhibitors may occur spontaneously as autoantibodies, resulting in acquired hemophilia known as acquired factor VIII deficiency. Approximately 10% of patients with acquired hemophilia have an underlying malignancy. A coagulation disorder characterized by the partial or complete absence of factor VIII or IX activity in the blood. C27215 Coagulation Factor Deficiency C103172 Congenital Bleeding Disorder C132009 C34676 Sickle Cell-Hemoglobin C Disease Hemoglobin SC Disease Sickle Cell-Hemoglobin C Disease A hemoglobinopathy that is considered a hybrid of sickle cell disease and hemoglobin C disease. Patients present with the symptoms of sickle cell disease but the latter are less frequent and severe compared to sickle cell disease. A variant of sickle cell disease due to heterozygosity for hemoglobin S and hemoglobin C mutations. Patients present with the symptoms of sickle cell disease but the symptoms are less frequent and severe compared to patients with full sickle cell disease. C3092 Hemoglobinopathy C34383 Sickle Cell Disease C132009 C6519 Spindle Cell Rhabdomyosarcoma Spindle Cell Rhabdomyosarcoma An uncommon variant of rhabdomyosarcoma characterized by the presence of whorls of spindle cells forming a storiform pattern. In children it usually arises in the paratesticular region. In adults it usually arises from the deep soft tissues in the head and neck. An uncommon variant of rhabdomyosarcoma that is characterized by the presence of whorls of spindle cells forming a storiform pattern. In children, it usually arises in the paratesticular region; in adults it usually arises from the deep soft tissues in the head and neck. C3359 Rhabdomyosarcoma C132009 C99055 Sacrococcygeal Teratoma Sacrococcygeal Teratoma A teratoma that is found at the base of the coccyx. It is the most commonly seen tumor in newborns. A teratoma that is found at the base of the coccyx; it is the most commonly seen tumor in newborns. C3262 Neoplasm C3403 Teratoma C132009 C7097 Mixed Epithelial and Mesenchymal Hepatoblastoma Mixed Epithelial and Mesenchymal Hepatoblastoma A hepatoblastoma characterized by the presence of fetal and embryonal epithelial components and a mesenchymal component. A hepatoblastoma characterized by the presence of fetal and embryonal epithelial components and a mesenchymal component. C3728 Hepatoblastoma C132009 C34817 Methemoglobinemia Methemoglobinemia An inherited or acquired condition characterized by abnormally increased levels of methemoglobin in the blood. An inherited or acquired condition characterized by abnormally increased levels of methemoglobin in the blood. C26323 Hematologic Disorder C132009 C99110 Drug Induced Thrombocytopenia Drug-Induced Thrombocytopenia Drug Induced Thrombocytopenia|Drug-Induced Immune Thrombocytopenia Thrombocytopenia caused by ingested or injected drugs. It may be the result of decreased platelet production due to bone marrow suppression or increased rate of platelet destruction. Thrombocytopenia caused by medications, which can be the result of decreased platelet production due to bone marrow suppression or increased rate of platelet destruction. C131634 Platelet Abnormality C3408 Thrombocytopenia C132009 C115292 Non-Metastatic Childhood Soft Tissue Sarcoma Non-Metastatic Childhood Soft Tissue Sarcoma A soft tissue sarcoma that occurs during childhood and has not spread beyond its original site of growth. A soft tissue sarcoma that occurs during childhood, and has not spread beyond its original site of growth. C7715 Childhood Soft Tissue Sarcoma C132009 C114812 Childhood Pineoblastoma Childhood Pineoblastoma A pineoblastoma that occurs during childhood. A pineoblastoma that occurs during childhood. C115196 Childhood Pineal Parenchymal Cell Neoplasm C132009 C114760 Childhood Brain Stem Mixed Glioma Childhood Brain Stem Mixed Glioma A mixed glioma that arises from the brain stem and occurs during childhood. A mixed glioma that arises from the brain stem and occurs during childhood. C9042 Childhood Brain Stem Glioma C115195 Childhood Mixed Glioma C132009 C114483 Childhood Langerhans Cell Histiocytosis Childhood Langerhans Cell Histiocytosis Langerhans cell histiocytosis that occurs during childhood. Langerhans cell histiocytosis that occurs during childhood. C3106 Histiocytosis C132009 C7210 Childhood T Lymphoblastic Lymphoma Childhood T Lymphoblastic Lymphoma A T lymphoblastic lymphoma that occurs during childhood. A T lymphoblastic lymphoma that occurs during childhood. C9124 Childhood Lymphoblastic Lymphoma C132009 C6589 Childhood Parosteal Osteosarcoma Childhood Parosteal Osteosarcoma A low grade malignant bone-forming mesenchymal neoplasm arising from the surface of the bone. It occurs in childhood and usually affects the distal posterior femur, the proximal tibia, and proximal humerus. Painless swelling is the usual clinical sign. The prognosis is usually excellent. A parosteal osteosarcoma occurring during childhood. C6585 Childhood Osteosarcoma C132009 C6216 Childhood Brain Stem Astrocytoma Childhood Brain Stem Astrocytoma An astrocytoma that arises from the brain stem and occurs during childhood. An astrocytoma that arises from the brain stem and occurs during childhood. C124275 Childhood Astrocytoma C9042 Childhood Brain Stem Glioma C132009 C115195 Childhood Mixed Glioma Childhood Mixed Glioma A mixed glioma that occurs during childhood. A mixed glioma that occurs during childhood. C5132 Childhood Central Nervous System Neoplasm C132009 C114833 Childhood Central Nervous System Embryonal Neoplasm Childhood Central Nervous System Embryonal Neoplasm A central nervous system embryonal neoplasm that occurs during childhood. An embryonal neoplasm that arises from the central nervous system during childhood. C5448 Malignant Childhood Central Nervous System Neoplasm C132009 C114968 Childhood Gliosarcoma Childhood Gliosarcoma A gliosarcoma that occurs during childhood. A gliosarcoma that occurs during childhood. C5136 Childhood Glioblastoma C132009 C114801 Childhood Gonadal Germ Cell Tumor Childhood Gonadal Germ Cell Tumor A germ cell tumor that arises from the testis or ovary and occurs during childhood. A germ cell tumor that arises from the testis or ovary and occurs during childhood. C68627 Childhood Extracranial Germ Cell Tumor C132009 C114963 Childhood Fibrillary Astrocytoma Childhood Fibrillary Astrocytoma A fibrillary astrocytoma that occurs during childhood. A fibrillary astrocytoma that occurs during childhood. C114967 Childhood Diffuse Astrocytoma C132009 C114966 Childhood Giant Cell Glioblastoma Childhood Giant Cell Glioblastoma A giant cell glioblastoma that occurs during childhood. A giant cell glioblastoma that occurs during childhood. C5136 Childhood Glioblastoma C132009 C5165 Childhood Lymphoma Childhood Lymphoma A Hodgkin or non-Hodgkin lymphoma that occurs during childhood. A Hodgkin or non-Hodgkin lymphoma that occurs during childhood. C3208 Lymphoma C132009 C114972 Childhood Protoplasmic Astrocytoma Childhood Protoplasmic Astrocytoma A protoplasmic astrocytoma that occurs during childhood. A protoplasmic astrocytoma that occurs during childhood. C114967 Childhood Diffuse Astrocytoma C132009 C123906 Childhood Gastrointestinal Stromal Tumor Childhood Gastrointestinal Stromal Tumor Childhood GIST A gastrointestinal stromal tumor (GIST) occurring in childhood. Pediatric GISTs differ biologically from adult GISTs in that only 11% of pediatric GISTs have activating mutations of KIT and PDGFRA. A gastrointestinal stromal tumor occurring during childhood. Pediatric GIST differ biologically from adult GIST in that only 11% of pediatric GIST have activating mutations of KIT and PDGFRA. C9305 Cancer C132009 C114970 Childhood Pilomyxoid Astrocytoma Childhood Pilomyxoid Astrocytoma A pilomyxoid astrocytoma that occurs during childhood. A pilomyxoid astrocytoma that occurs during childhood. C124275 Childhood Astrocytoma C132009 C114971 Childhood Pleomorphic Xanthoastrocytoma Childhood Pleomorphic Xanthoastrocytoma A pleomorphic xanthoastrocytoma that occurs during childhood. A pleomorphic xanthoastrocytoma that occurs during childhood. C124275 Childhood Astrocytoma C132009 C114759 Childhood Brain Stem Gliosarcoma Childhood Brain Stem Gliosarcoma A gliosarcoma that arises from the brain stem and occurs during childhood. A gliosarcoma that arises from the brain stem and occurs during childhood. C9042 Childhood Brain Stem Glioma C114968 Childhood Gliosarcoma C132009 C114964 Childhood Gemistocytic Astrocytoma Childhood Gemistocytic Astrocytoma A gemistocytic astrocytoma that occurs during childhood. A gemistocytic astrocytoma that occurs during childhood. C114967 Childhood Diffuse Astrocytoma C132009 C27371 Childhood Clear Cell Sarcoma of Soft Parts Childhood Clear Cell Sarcoma of Soft Tissue A rare malignant neoplasm with melanocytic differentiation characterized by the presence of polygonal or spindle shaped clear cells affecting children. This sarcoma usually affects the tendons and aponeuroses and is associated with a poor prognosis due to recurrences and metastases. A clear cell sarcoma of soft tissue occurring in children. C7715 Childhood Soft Tissue Sarcoma C132009 C8578 Childhood Ependymoma Childhood Ependymoma An ependymoma that arises from the central nervous system and occurs during childhood. An ependymoma that occurs during childhood. C115192 Childhood Ependymal Tumor C132009 C114973 Childhood Anaplastic Oligoastrocytoma Childhood Anaplastic Oligoastrocytoma An anaplastic oligoastrocytoma that occurs during childhood. An anaplastic oligoastrocytoma that occurs during childhood. C115195 Childhood Mixed Glioma C5448 Malignant Childhood Central Nervous System Neoplasm C132009 C115192 Childhood Ependymal Tumor Childhood Ependymal Tumor An ependymal tumor that occurs during childhood. An ependymal tumor that occurs during childhood. C5132 Childhood Central Nervous System Neoplasm C132009 C114974 Childhood Oligoastrocytoma Childhood Oligoastrocytoma An oligoastrocytoma that occurs during childhood. An oligoastrocytoma that occurs during childhood. C115195 Childhood Mixed Glioma C132009 C6590 Childhood Conventional Osteosarcoma Childhood Conventional Osteosarcoma A high grade malignant bone-forming mesenchymal neoplasm that produces osteoid and occurs in childhood. It arises from the medullary portion of the bone. It affects the long bones, and most commonly, the distal femur, proximal tibia, and proximal humerus. Pain with or without a palpable mass is the most common clinical presentation. It usually has an aggressive growth and may metastasize through the hematogenous route. The lung is the most frequent site of metastasis. A conventional osteosarcoma occurring during childhood. C6585 Childhood Osteosarcoma C132009 C114967 Childhood Diffuse Astrocytoma Childhood Diffuse Astrocytoma A diffuse astrocytoma that occurs during childhood. A diffuse astrocytoma that occurs during childhood. C124275 Childhood Astrocytoma C132009 C27377 Childhood Myxoid Chondrosarcoma Childhood Myxoid Chondrosarcoma A myxoid chondrosarcoma occurring in children. A myxoid chondrosarcoma occurring during childhood. C7715 Childhood Soft Tissue Sarcoma C132009 C27374 Childhood Mesenchymal Chondrosarcoma Childhood Mesenchymal Chondrosarcoma A mesenchymal chondrosarcoma occurring in children. A mesenchymal chondrosarcoma occurring during childhood. C7715 Childhood Soft Tissue Sarcoma C132009 C114969 Childhood Gliomatosis Cerebri Childhood Gliomatosis Cerebri Gliomatosis cerebri that occurs during childhood. Gliomatosis cerebri that occurs during childhood. C7703 Childhood Brain Neoplasm C132009 C51934 Complete Excision Complete Resection The surgical removal of an entire structure or organ. Surgical removal of an entire lesion as confirmed by pathology. Surgical margins are clear. C15329 Surgical Procedure C132009 C68677 von Willebrand Disease von Willebrand Disease von Willebrand Disorder Hereditary or acquired coagulation disorder characterized by a qualitative or quantitative deficiency of the von Willebrand factor. The latter plays an important role in platelet adhesion. Signs and symptoms include bruises, nose bleeding, gum bleeding following a dental procedure, heavy menstrual bleeding, and gastrointestinal bleeding. Hereditary or acquired coagulation disorder characterized by a qualitative or quantitative deficiency of the von Willebrand factor. The latter plays an important role in platelet adhesion. Signs and symptoms include mucocutaneous bleeding. C2902 Coagulation Disorder C27215 Coagulation Factor Deficiency C132009 C61249 Glanzmann Thrombasthenia Glanzmann Thrombasthenia A rare, autosomal recessive inherited and less frequently acquired platelet disorder. It is characterized by deficient or dysfunctional glycoprotein IIb/IIIa complex. It leads to defective platelet aggregation, resulting in bleeding. A rare, autosomal recessive inherited, and less frequently acquired, platelet disorder that is characterized by deficient or dysfunctional glycoprotein IIb/IIIa complex, which leads to defective platelet aggregation, resulting in bleeding. C131634 Platelet Abnormality C132009 C84705 Hereditary Factor XI Deficiency Hereditary Factor XI Deficiency Disease A rare inherited bleeding disorder caused by deficiency of coagulation factor XI. It may be asymptomatic or manifest with bleeding. An autosomal recessive, inherited coagulation disorder characterized by the partial or complete absence of factor XI activity in the blood. C3101 Genetic Disorder C3093 Hemophilia C132009 C123406 FLT3-Internal Tandem Duplication High Allelic Ratio FLT3-Internal Tandem Duplication High Allelic Ratio FLT3-Internal Tandem Duplication Amplification A molecular genetic finding in acute myeloid leukemias indicating that FLT3-internal tandem duplication (FLT3-ITD) is the dominant lesion, and which is present in the majority or all of the leukemic cells. A molecular genetic finding in acute myeloid leukemias indicating that FLT3-internal tandem duplication (FLT3-ITD) is the dominant lesion; it is present in the majority or all of the leukemic cells. C36292 Laboratory Test Result C132009 C123399 First Relapse First Relapse First Recurrence The reemergence of a disorder as diagnosed by clinical and/or laboratory evidence following a single documented period of remission. The reemergence of a disorder as diagnosed by clinical and/or laboratory evidence following a single documented period of remission. C38155 Recurrent Disease C132009 C49204 Anaplastic Embryonal Rhabdomyosarcoma Anaplastic Embryonal Rhabdomyosarcoma A morphologic variant of embryonal rhabdomyosarcoma. It is characterized by the presence of large hyperchromatic and anaplastic cells. A morphologic variant of embryonal rhabdomyosarcoma; it is characterized by the presence of large, hyperchromatic, anaplastic cells. C3359 Rhabdomyosarcoma C132009 C131504 Acute Myeloid Leukemia with t(11;15)(p15;q35); NUP98-JARID1A Acute Myeloid Leukemia with t(11;15)(p15;q35); NUP98-JARID1A AML with t(11;15)(p15;q35); NUP98-JARID1A Acute myeloid leukemia with a cytogenetically cryptic fusion of NUP98 to JARID1A, t(11;15)(p15;q35). It typically has a megakaryocytic phenotype and occurs in 10% of pediatric, non-Down syndrome-related acute megakaryoblastic leukemia cases. Acute myeloid leukemia (AML) with a cytogenetically, cryptic fusion of NUP98 to JARID1A, t(11;15)(p15;q35). It typically has an megakaryocytic phenotype and occurs in 10% of pediatric, non-Down Syndrome-related acute megakaryoblastic leukemia (AMKL) cases. C122691 Childhood Acute Myeloid Leukemia with NUP98 Rearrangement C132009 C131502 Acute Myeloid Leukemia with t(5;11)(q35;p15); NUP98-NSD1 Acute Myeloid Leukemia with t(5;11)(q35;p15); NUP98-NSD1 AML with t(5;11)(q35;p15); NUP98-NSD1 Acute myeloid leukemia with often cytogenetically cryptic fusion of NUP98 (chromosome 11p15) with NSD1 (chromosome 5q35). This alteration occurs in 4% of pediatric AML cases. Acute myeloid leukemia (AML) with often cytogenetically cryptic fusion of NUP98 (chromosome 11p15) with NSD1 (chromosome 5q35). This alteration occurs in 4% of pediatric AML cases. C122691 Childhood Acute Myeloid Leukemia with NUP98 Rearrangement C132009 C39911 Testicular Gonadoblastoma Testicular Gonadoblastoma A testicular mixed germ cell-sex cord-stromal tumor. It is usually associated with mixed gonadal dysgenesis and ambiguous genitalia. It is characterized by the presence of nests of large neoplastic germ cells and immature cells that resemble Sertoli cells. A gonadoblastoma that occurs in the testis. C3754 Gonadoblastoma C7322 Testicular Mixed Germ Cell-Sex Cord-Stromal Tumor C132009 C39947 Juvenile Type Testicular Granulosa Cell Tumor Juvenile Type Testicular Granulosa Cell Tumor A rare sex cord-stromal tumor that arises from the testis. It is the most frequent congenital testicular neoplasm and is usually diagnosed during the perinatal period. It usually presents as an asymptomatic scrotal or abdominal mass. Morphologically it is characterized by the presence of cysts that are lined by cells resembling granulosa and theca cells. A rare sex cord-stromal tumor that arises from the testis. C4207 Juvenile Type Granulosa Cell Tumor C6357 Testicular Granulosa Cell Tumor C132009 C7133 Ovarian Sertoli Cell Tumor Ovarian Sertoli Cell Tumor A rare, typically benign ovarian neoplasm composed of Sertoli cells. Patients may present with pseudoprecocity, menometrorrhagia, amenorrhea, hirsutism, and hoarseness. Rarely it may invade the ovarian stroma and extend beyond the ovary. A Sertoli cell tumor that occurs in the ovary. C39966 Ovarian Sertoli-Stromal Tumor C39976 Sertoli Cell Tumor C132009 C45628 Type III Pleuropulmonary Blastoma Type III Pleuropulmonary Blastoma A pleuropulmonary blastoma characterized by a solid pattern and sarcomatous features. It usually follows an aggressive clinical course. A pleuropulmonary blastoma comprising malignant small cells in a solid pattern. C5669 Pleuropulmonary Blastoma C132009 C45627 Type II Pleuropulmonary Blastoma Type II Pleuropulmonary Blastoma A pleuropulmonary blastoma composed of malignant small cells and characterized by the presence of a sarcomatous component. It usually follows an aggressive clinical course. A pleuropulmonary blastoma comprising malignant small cells in a cystic and solid pattern. C5669 Pleuropulmonary Blastoma C132009 C45626 Type I Pleuropulmonary Blastoma Type I Pleuropulmonary Blastoma A pleuropulmonary blastoma composed of malignant small cells. Sarcomatous features are absent. A pleuropulmonary blastoma comprising malignant small cells in a cystic pattern. C5669 Pleuropulmonary Blastoma C132009 C123400 Subsequent Relapse Subsequent Relapse Subsequent Recurrence The reemergence of a disorder as diagnosed by clinical and/or laboratory evidence following two or more documented periods of remission. The reemergence of a disorder as diagnosed by clinical and/or laboratory evidence following two or more documented periods of remission. C38155 Recurrent Disease C132009 C131501 Recurrent Subsequent Malignant Neoplasm Recurrent Subsequent Malignancy Recurrent Secondary Malignancy The reemergence of a malignant neoplasm other than the original one, after a period of remission. The return of a malignancy, other than the original one, after a period of remission. C38155 Recurrent Disease C132009 C123731 Fusion-Positive Alveolar Rhabdomyosarcoma Fusion-Positive Alveolar Rhabdomyosarcoma Fusion Gene Positive Alveolar Rhabdomyosarcoma An alveolar rhabdomyosarcoma characterized by the presence of chromosomal translocation t(1;13)(p36;q14) that results in PAX7-FOXO1 gene fusion; or translocation t(2;13)(q35;q14) that results in PAX3-FOXO1 gene fusion. Approximately 80% of alveolar rhabdomyosarcomas are fusion-positive. A subtype of alveolar rhabdomyosarcoma associated with translocations between the FOXO1 gene on chromosome 13, and either the PAX3 gene on chromosome 2 (t(2;13)(q35;q14)) or the PAX7 gene on chromosome 1 (t(1:13)(p36;q14)). C3359 Rhabdomyosarcoma C132009 C123732 Fusion-Negative Alveolar Rhabdomyosarcoma Fusion-Negative Alveolar Rhabdomyosarcoma Fusion Gene Negative Alveolar Rhabdomyosarcoma An alveolar rhabdomyosarcoma characterized by the absence of chromosomal translocation t(1;13)(p36;q14) or t(2;13)(q35;q14) and therefore the absence of PAX7-FOXO1 or PAX3-FOXO1 gene fusion. A subtype of alveolar rhabdomyosarcoma that is not associated with translocations of the FOXO1 gene. Fusion gene-negative alveolar rhabdomyosarcoma is clinically and molecularly indistinguishable from embryonal rhabdomyosarcoma. C3359 Rhabdomyosarcoma C132009 C34974 Pure Red Cell Aplasia Pure Red Cell Aplasia PRCA A disease characterized by normocytic, normochromic anemia, low hematocrit, reticulocytopenia, and selective erythroid hypoplasia. A condition characterized by aplasia of the erythroid series only. The leukocytes and platelets are not affected. C26323 Hematologic Disorder C132009 C35882 Hereditary Elliptocytosis Hereditary Elliptocytosis Hereditary Ovalocytosis An inherited blood disorder in which a large number of red blood cells have an elliptical morphology. An autosomal dominant inherited hemolytic anemia that is characterized by the presence of elongated erythrocytes. It is most commonly associated with mutations in the SPTA1 and SPTB genes, which encode alpha- and beta-spectrin respectively. C101218 Hemolytic Anemia due to Erythrocyte Membrane Defect C132009 C34379 Hereditary Hemolytic Anemia Hereditary Hemolytic Anemia A congenital hemolytic anemia caused by defects of the erythrocyte membrane, enzyme deficiencies, or hemoglobinopathies. Hemolytic anemia for which the cause is an inherited disorder. C35228 Congenital Anemia C34376 Hemolytic Anemia C132009 C7289 Juvenile Type Ovarian Granulosa Cell Tumor Juvenile Type Ovarian Granulosa Cell Tumor A granulosa cell tumor that affects females in the first three decades of life. In young girls it may present with pseudoprecocity. In women during reproductive years, it may present with menstrual abnormalities. A granulosa cell tumor that affects females within the first three decades of life. C4207 Juvenile Type Granulosa Cell Tumor C6261 Ovarian Granulosa Cell Tumor C132009 C8288 Bone Marrow Involvement Bone Marrow Involvement Marrow Involvement Infiltration of the bone marrow by a malignant neoplasm. Infiltration of the bone marrow by a malignant neoplasm. C36289 Hematopoietic System Finding C132009 C122603 Infant Leukemia Infant Leukemia An acute lymphoblastic or acute myeloid leukemia that occurs in infancy. Leukemia diagnosed at less than one year of age. C4989 Childhood Leukemia C132009 C122617 Infant Acute Lymphoblastic Leukemia with MLL Rearrangement Infant Acute Lymphoblastic Leukemia with MLL Gene Rearrangement Infant ALL with MLL Rearrangement An acute lymphoblastic leukemia with rearrangement of the MLL gene that occurs in infancy. A type of acute lymphoblastic leukemia that is seen more frequently in infants younger than six months of age, as compared to those between six months of age and one year; it is characterized by very high white blood cell counts and increased incidence of central nervous system involvement. C122614 Infant Acute Lymphoblastic Leukemia C132009 C122614 Infant Acute Lymphoblastic Leukemia Infant Acute Lymphoblastic Leukemia Infant ALL An acute lymphoblastic leukemia that occurs in infancy. Acute lymphoblastic leukemia occurring in children less than one year of age. The majority of the cases are associated with t(11q23)/MLL (Mixed Lineage Leukemia) gene rearrangements. C3168 Childhood Acute Lymphoblastic Leukemia C122603 Infant Leukemia C132009 C101218 Hemolytic Anemia due to Membrane Defect Hemolytic Anemia due to Erythrocyte Membrane Defect Anemia due to Membrane Defect|Hemolytic Anemia due to Membrane Defect A group of inherited hemolytic anemias caused by erythrocyte membrane defects. This includes hereditary pyropoikilocytosis, hereditary spherocytosis and hereditary elliptocytosis. A group of inherited hemolytic anemias caused by erythrocyte membrane defects. This includes hereditary pyropoikilocytosis, hereditary spherocytosis, and hereditary elliptocytosis. C34376 Hemolytic Anemia C34379 Hereditary Hemolytic Anemia C132009 C3092 Hemoglobinopathy Hemoglobinopathy An inherited disorder characterized by structural alterations of a globin chain within the hemoglobin molecule. An inherited disorder characterized by structural alterations of a globin chain within the hemoglobin molecule. C104003 Congenital Hematological Disorder C132009 C7094 Hepatoblastoma with Combined Fetal and Embryonal Epithelial Differentiation Hepatoblastoma with Combined Fetal and Embryonal Epithelial Differentiation A hepatoblastoma composed of cells resembling fetal epithelial cells and small round cells resembling blastema cells. A hepatoblastoma comprising cells resembling fetal epithelial cells and small round cells resembling blastema cells. C3728 Hepatoblastoma C132009 C7096 Small Cell Undifferentiated Hepatoblastoma Small Cell Undifferentiated Hepatoblastoma A hepatoblastoma composed exclusively of noncohesive sheets of small undifferentiated cells. A hepatoblastoma exclusively comprising noncohesive sheets of small undifferentiated cells. C3728 Hepatoblastoma C132009 C61229 Severe Aplastic Anemia Severe Aplastic Anemia SAA Life-threatening anemia associated with a high risk of infection or bleeding. Life-threatening anemia associated with a high risk of infection or bleeding. Historically defined as bone marrow (BM) cellularity <25% (or <50% if <30% of BM is hematopoietic cells), and two or more of the following: absolute neutrophil count of <500; platelet count of <20,000; or a corrected reticulocyte count of <1%. Absence of cytogenetic abnormalities associated with myelodysplastic syndrome or malignancy must be ruled out prior to diagnosis. C2870 Aplastic Anemia C132009 C122607 Late Relapse Late Relapse Late Recurrence Clinical and/or laboratory evidence of late reemergence of a disorder after a period of remission. Clinical and/or laboratory evidence of late reemergence of a disorder after a period of remission. C38155 Recurrent Disease C132009 C131677 Megaloblastic Anemia 1 Megaloblastic Anemia 1 Imerslund-Gräsbeck Syndrome|Juvenile Megaloblastic Anemia|MGA-1 An autosomal recessive disorder caused by mutations in the CUBN or AMN genes. It is characterized by vitamin B12 deficiency due to selective malabsorption of the vitamin, and usually results in megaloblastic anemia appearing in childhood (but not immediately after birth). An autosomal recessive disorder caused by mutations in the CUBN or AMN genes. It is characterized by vitamin B12 deficiency due to selective malabsorption of the vitamin, and usually results in megaloblastic anemia appearing in childhood (but not immediately after birth). C34382 Megaloblastic Anemia C132009 C34382 Megaloblastic Anemia Megaloblastic Anemia Anemia characterized by the presence of unusually large erythroblasts in the bone marrow called megaloblasts. It is usually caused by vitamin B12 or folic acid deficiency. Other causes include toxins and drugs. A disorder characterized by low red blood cells and/or hemoglobin and abnormally large, immature circulating red blood cells. C2869 Anemia C34381 Macrocytic Anemia C132009 C122606 Early Relapse Early Relapse Early Recurrence Clinical and/or laboratory evidence of early reemergence of a disorder after a period of remission. Clinical and/or laboratory evidence of early reemergence of a disorder after a period of remission. C38155 Recurrent Disease C132009 C39977 Ovarian Stromal-Leydig Cell Tumor Ovarian Stromal-Leydig Tumor A rare, benign and well circumscribed stromal tumor of the ovary. It is characterized by the presence of a fibrotic stroma with clusters of Leydig cells. The Leydig cells contain crystals of Reinke. Patients may present with virilization. A rare, benign, well circumscribed stromal tumor of the ovary. It is characterized by the presence of a fibrotic stroma with clusters of Leydig cells. C39966 Ovarian Sertoli-Stromal Tumor C132009 C39966 Ovarian Sertoli-Stromal Cell Tumor Ovarian Sertoli-Stromal Tumor A sex cord-stromal tumor that arises from the ovary and is composed entirely of, or in various combinations of, Sertoli cells, Leydig cells, and fibroblast-like cells. A sex cord-stromal tumor, comprising in its entirety or in various combinations, Sertoli cells, Leydig cells, and fibroblast-like cells, that arises from the ovary. C4862 Ovarian Sex Cord-Stromal Tumor C132009 C7287 Ovarian Granulosa-Stromal Cell Tumor Ovarian Granulosa-Stromal Tumor A group of sex cord-stromal tumors that arise from the ovary. These tumors are characterized by the presence of granulosa cells, stromal cells, and/or theca cells. This group includes granulosa cell tumor and tumors of the thecoma/fibroma group. A granulosa cell-stromal tumor that occurs in the ovary. C4862 Ovarian Sex Cord-Stromal Tumor C132009 C39985 Ovarian Gonadoblastoma Ovarian Gonadoblastoma A neoplasm that arises from the ovary and is composed of tissues that resemble dysgerminoma or seminoma and are admixed with sex cord tissues. It is found in children or young adults and usually is associated with secondary sex organs abnormalities. The majority of patients present as phenotypic females with virilization. The minority of patients present as phenotypic males with feminization. It typically affects both gonads. If a malignant germ cell component is present, it may metastasize to other anatomic sites. A gonadoblastoma that occurs in the ovary. C3754 Gonadoblastoma C7321 Ovarian Mixed Germ Cell-Sex Cord-Stromal Tumor C132009 C122715 Central Nervous System Involvement Central Nervous System Involvement CNS Involvement A finding indicating the involvement of the central nervous system by a malignant neoplasm. A finding indicating the involvement of the central nervous system by a malignant neoplasm. C36280 Nervous System Finding C132009 C27215 Coagulation Factor Deficiency Coagulation Factor Deficiency Coagulation Factor Deficiency Syndrome Congenital or acquired deficiency of one of the coagulation factors. It results in bleeding. Congenital or acquired deficiency of one of the coagulation factors. C2902 Coagulation Disorder C132009 C124273 Childhood Ganglioneuroblastoma, Intermixed Childhood Intermixed Ganglioneuroblastoma An intermixed ganglioneuroblastoma that occurs during childhood. An intermixed ganglioneuroblastoma that occurs during childhood. C124271 Childhood Ganglioneuroblastoma C132009 C124274 Childhood Ganglioneuroblastoma, Nodular Childhood Nodular Ganglioneuroblastoma A nodular ganglioneuroblastoma that occurs during childhood. A nodular ganglioneuroblastoma that occurs during childhood. C124271 Childhood Ganglioneuroblastoma C132009 C124275 Childhood Astrocytoma Childhood Astrocytoma An astrocytoma that occurs during childhood. An astrocytoma that occurs during childhood. C60781 Astrocytoma C9022 Childhood Astrocytic Tumor C132009 C27405 Childhood Central Nervous System Immature Teratoma Childhood Central Nervous System Immature Teratoma An immature teratoma that arises from the central nervous system and occurs during childhood. An immature teratoma that arises from the central nervous system during childhood. C6204 Childhood Central Nervous System Teratoma C123834 Childhood Immature Teratoma C132009 C123840 Childhood Seminoma Childhood Seminoma Childhood Testicular Germinomatous Germ Cell Tumor A seminoma occurring in children. A seminoma occurring in children. C123838 Childhood Germinomatous Germ Cell Tumor C68628 Childhood Malignant Testicular Germ Cell Tumor C132009 C122691 Childhood Acute Myeloid Leukemia with NUP98 Rearrangement Childhood Acute Myeloid Leukemia with NUP98 Rearrangement Childhood AML with NUP98 Rearrangement An acute myeloid leukemia that occurs in childhood and is characterized by the rearrangement of the NUP98 gene. An acute myeloid leukemia that occurs during childhood, and is characterized by the rearrangement of the NUP98 gene. C9160 Childhood Acute Myeloid Leukemia C132009 C39814 Classic Congenital Mesoblastic Nephroma Classic Congenital Mesoblastic Nephroma A congenital mesoblastic nephroma characterized by the presence of interlacing fascicles of fibroblastic cells, low mitotic activity, and collagen formation. A congenital, mesoblastic nephroma that is characterized by the presence of interlacing fascicles of fibroblastic cells, low mitotic activity, and collagen formation. It is often diagnosed by prenatal ultrasound or within 3 months of birth, and closely resembles infantile fibromatosis. C6569 Congenital Mesoblastic Nephroma C132009 C122726 Childhood Acute Myeloid Leukemia with Abnormalities of Chromosome 7 Childhood Acute Myeloid Leukemia with Abnormalities of Chromosome 7 Childhood AML with Abnormalities of Chromosome 7 A rare acute myeloid leukemia that occurs in childhood and is characterized by deletion of chromosome 7. Childhood acute myeloid leukemia (AML) characterized by deletion of chromosome 7. This subgroup occurs in 4% of children with AML. C9160 Childhood Acute Myeloid Leukemia C132009 C27404 Childhood Central Nervous System Mature Teratoma Childhood Central Nervous System Mature Teratoma A mature teratoma that arises from the central nervous system during childhood. A mature teratoma that arises from the central nervous system during childhood. C6204 Childhood Central Nervous System Teratoma C123836 Childhood Mature Teratoma C132009 C123903 Childhood Thyroid Gland Papillary Carcinoma Childhood Thyroid Gland Papillary Carcinoma Childhood Papillary Thyroid Carcinoma A papillary thyroid gland carcinoma occurring in childhood. RET/PTC gene rearrangements are more common in children than adults. A papillary thyroid carcinoma occurring during childhood. The RET/PTC gene rearrangements are more common in children than adults. C118827 Childhood Thyroid Gland Carcinoma C132009 C124272 Childhood Central Nervous System Ganglioneuroblastoma Childhood Cerebral Ganglioneuroblastoma A cerebral ganglioneuroblastoma that occurs during childhood. A cerebral ganglioneuroblastoma that occurs during childhood. C124271 Childhood Ganglioneuroblastoma C132009 C123842 Childhood Ovarian Nongerminomatous Germ Cell Tumor Childhood Ovarian Non-Germinomatous Germ Cell Tumor A nongerminomatous germ cell tumor that arises in the ovary and occurs in children. A non-germinomatous germ cell tumor that arises from the ovary during childhood. C123841 Childhood Non-Germinomatous Germ Cell Tumor C8588 Childhood Ovarian Germ Cell Tumor C132009 C118813 Childhood Gastric Carcinoma Childhood Gastric Carcinoma Childhood Carcinoma of the Stomach A rare carcinoma of the stomach that occurs during childhood. A gastric carcinoma occurring during childhood. C9305 Cancer C132009 C69142 Childhood Classical Hodgkin Lymphoma Childhood Classical Hodgkin Lymphoma A classical Hodgkin lymphoma that occurs during childhood. A classical Hodgkin lymphoma that occurs during childhood. Four subtypes are included: mixed cellularity, nodular sclerosis, lymphocyte-depleted, lymphocyte-rich. C7714 Childhood Hodgkin Lymphoma C132009 C123904 Childhood Thyroid Gland Follicular Carcinoma Childhood Thyroid Gland Follicular Carcinoma Childhood Follicular Thyroid Carcinoma A follicular thyroid gland carcinoma occurring in childhood. A follicular thyroid carcinoma occurring during childhood. C118827 Childhood Thyroid Gland Carcinoma C132009 C35876 Childhood Intracranial Neoplasm Childhood Intracranial Neoplasm A neoplasm that arises within the skull and occurs during childhood. A primary neoplasm that arises within the skull, and which occurs during childhood. C5132 Childhood Central Nervous System Neoplasm C132009 C123905 Childhood Thyroid Gland Medullary Carcinoma Childhood Thyroid Gland Medullary Carcinoma Childhood Medullary Thyroid Carcinoma A medullary thyroid gland carcinoma occurring in childhood. A medullary thyroid carcinoma occurring during childhood. C118827 Childhood Thyroid Gland Carcinoma C132009 C118827 Childhood Thyroid Gland Carcinoma Childhood Thyroid Gland Carcinoma Childhood Thyroid Carcinoma A rare carcinoma of the thyroid gland that occurs during childhood. Malignant tumor occurring in the thyroid gland in children. There are 3 types: papillary, follicular and medullary. C4815 Thyroid Carcinoma C132009 C39815 Cellular Congenital Mesoblastic Nephroma Cellular Congenital Mesoblastic Nephroma A congenital mesoblastic nephroma characterized by increased cellularity, sheet-like proliferation of fibroblastic cells, and increased mitotic activity. Necrotic changes are commonly present. A congenital mesoblastic nephroma that is characterized by increased cellularity, sheet-like proliferation of fibroblastic cells, and increased mitotic activity. There is a suggested linkage with infantile fibrosarcoma that is based on both containing the same t(12;15)(p13;q25) translocation, resulting in the ETV6/NTRK3 fusion. This type is associated with risk of recurrence. C6569 Congenital Mesoblastic Nephroma C132009 C123841 Childhood Nongerminomatous Germ Cell Tumor Childhood Non-Germinomatous Germ Cell Tumor A nongerminomatous germ cell tumor occurring in children. A non-germinomatous germ cell tumor occurring in children. C7928 Childhood Germ Cell Tumor C132009 C4989 Childhood Leukemia Childhood Leukemia An acute or chronic leukemia that occurs during childhood. An acute or chronic leukemia that occurs during childhood and adolescence. C3161 Leukemia C132009 C123843 Childhood Testicular Non-Seminomatous Germ Cell Tumor Childhood Testicular Non-Seminomatous Germ Cell Tumor Childhood Testicular Non-Germinomatous Germ Cell Tumor A non-seminomatous germ cell tumor that arises in the testis and occurs in children. A non-seminomatous germ cell tumor that arises from the testis during childhood. C123841 Childhood Non-Germinomatous Germ Cell Tumor C6552 Childhood Testicular Germ Cell Tumor C132009 C122725 Childhood Acute Myeloid Leukemia with Abnormalities of Chromosome 5q Childhood Acute Myeloid Leukemia with Abnormalities of Chromosome 5q Childhood AML with Abnormalities of Chromosome 5q A rare acute myeloid leukemia that occurs in childhood and is characterized primarily by deletions of 5q. Childhood acute myeloid leukemia (AML) characterized primarily by deletions of 5q(-5/5q-). This subtype occurs in 2% of children with AML. C9160 Childhood Acute Myeloid Leukemia C132009 C27362 Childhood Ganglioglioma Childhood Ganglioglioma A ganglioglioma that arises from the central nervous system and occurs during childhood. A ganglioglioma that occurs during childhood. C5132 Childhood Central Nervous System Neoplasm C132009 C103172 Congenital Bleeding Disorder Congenital Bleeding Disorder Congenital Bleeding Defect|Congenital Coagulation Defect A bleeding disorder that is diagnosed during childhood, with the presenting symptom of excessive bleeding. A congenital disorder resulting in excessive bleeding. C2902 Coagulation Disorder C104003 Congenital Hematological Disorder C132009 C35880 Blast Cells Present Blast Cells Present Circulating Blasts A laboratory test result indicating the presence of blast cells in a blood sample. The presence of immature blood cells in the circulation. C36292 Laboratory Test Result C132009 C84741 Gray Platelet Syndrome Gray Platelet Syndrome Grey Platelet Syndrome A rare inherited bleeding disorder characterized by the decrease or absence of the platelet alpha-granules and their proteins in the peripheral blood platelets. A rare, inherited bleeding disorder characterized by the decrease or absence of the platelet alpha-granules and their proteins in the peripheral blood platelets. C131634 Platelet Abnormality C28193 Syndrome C132009 C131662 Factor III Inactivation Factor III Inactivation Factor III Inhibitor Present|Tissue Factor Inhibitor Present Presence of inactivating antibodies to tissue factor (factor III) in the blood. Presence of inactivating antibodies to tissue factor (factor III) in the blood. C131623 Acquired Factor III Deficiency C132009 C98938 Hereditary Factor V Deficiency Hereditary Factor V Deficiency A very rare autosomal recessive inherited blood coagulation disorder characterized by deficiency of factor V, resulting in bleeding. An autosomal recessive, inherited coagulation disorder characterized by the partial or complete absence of factor V activity in the blood. C98942 Hereditary Coagulation Factor Deficiency C132009 C35282 Alpha Fetoprotein Increased Alpha Fetoprotein Increased A laboratory test result indicating an increase in the concentration of alpha fetoproteins in the blood. A rise in the amount of alpha fetoprotein detected in the blood as compared to normal for age group and gestational age. In some instances this can be indicative of a tumor. C36292 Laboratory Test Result C132009 C34368 Alpha Thalassemia Alpha Thalassemia A genetic hematologic disorder characterized by partial or complete absence of the alpha globin chains of the heme molecule. A genetic hematologic disorder characterized by loss of function mutations in one or more of the alpha globin genes. C35069 Thalassemia C132009 C97167 Anemia of Prematurity Anemia of Prematurity A blood disorder characterized by low hemoglobin levels in premature neonates that usually spontaneously resolves within 3-6 months post birth. A combination of factors including the transition from the liver to the bone marrow for erythropoiesis in a neonate, blood loss experienced during delivery, the shortened life span of fetal blood cells, and an acclimation to a relatively hyperoxic environment outside the womb can predispose a neonate to this condition. A blood disorder characterized by low hemoglobin levels in premature neonates that usually spontaneously resolves within 3-6 months after birth. C2869 Anemia C104003 Congenital Hematological Disorder C132009 C35469 Anemia due to Disorder of Nucleotide Metabolism Anemia due to Disorder of Nucleotide Metabolism A group of hemolytic anemias that result from either the deficiency or overproduction of several enzymes involved in metabolizing nucleotides. A group of hemolytic anemias that result from either the deficiency or overproduction of several enzymes involved in metabolizing nucleotides. C2869 Anemia C132009 C34384 Anemia due to Disorder of Glutathione Metabolism Anemia due to Disorder of Glutathione Metabolism Anemia resulting from an abnormality of glutathione deficiency. A form of hemolytic anemia that results from the defective metabolism of the amino acid glutathione. C2869 Anemia C132009 C35472 Anemia due to Enzyme Disorder Anemia due to Enzyme Disorder Any form of anemia that results from the absence of, or the defective action of, any enzyme. Any form of anemia that results from the absence of, or the defective action of, any enzyme. C2869 Anemia C132009 C35345 Acquired Factor VIII Deficiency Acquired Factor VIII Deficiency An acquired coagulation disorder characterized by the partial or complete absence of factor VIII activity in the blood. An acquired coagulation disorder characterized by the partial or complete absence of factor VIII activity in the blood. C34347 Acquired Coagulation Factor Deficiency C3093 Hemophilia C132009 C34377 Acquired Hemolytic Anemia Acquired Hemolytic Anemia Hemolytic anemia, the cause of which is not present at birth. A form of hemolytic anemia, characterized by the premature destruction of the erythrocytes, for which the cause is not present at birth. C34376 Hemolytic Anemia C132009 C131653 Acquired Thrombotic Thrombocytopenic Purpura Acquired Thrombotic Thrombocytopenic Purpura Acquired ADAMTS13 Deficiency|Acquired TTP Thrombotic thrombocytopenic purpura for which the cause is not present at birth. Thrombotic thrombocytopenic purpura for which the cause is not present at birth. C78797 Thrombotic Thrombocytopenic Purpura C132009 C35440 Acquired Factor IX Deficiency Acquired Factor IX Deficiency An acquired coagulation disorder characterized by the partial or complete absence of factor IX activity in the blood. An acquired coagulation disorder characterized by the partial or complete absence of factor IX activity in the blood. C34347 Acquired Coagulation Factor Deficiency C3093 Hemophilia C132009 C34347 Acquired Coagulation Factor Deficiency Acquired Coagulation Factor Deficiency Deficiency of a coagulation factor that is not caused by genetic alterations. Causes include vitamin K deficiency, amyloidosis, and severe liver disease. Deficiency of a coagulation factor that is not caused by genetic alterations. C27215 Coagulation Factor Deficiency C132009 C84595 Bernard-Soulier Syndrome Bernard-Soulier Syndrome Platelet Glycoprotein Ib Deficiency A rare, autosomal recessive bleeding disorder characterized by deficiency or absence of the Ib/IX/V complex on the surface of platelets. It results in thrombocytopenia, prolonged bleeding time and the presence of giant platelets. A rare, autosomal recessive bleeding disorder characterized by deficiency or absence of the Ib/IX/V complex on the surface of platelets. It results in thrombocytopenia, prolonged bleeding and the presence of giant platelets. C131634 Platelet Abnormality C28193 Syndrome C132009 C35465 Aplastic Anemia due to Radiation Aplastic Anemia due to Radiation Aplastic anemia caused by excessive absorption of radiation by the bone marrow. Aplastic anemia caused by excessive absorption of radiation by the bone marrow. C2870 Aplastic Anemia C132009 C35466 Aplastic Anemia due to Infection Aplastic Anemia due to Infection Aplastic anemia caused by an infection. Aplastic anemia caused by an infection. C2870 Aplastic Anemia C132009 C61231 Aplastic Anemia due to Hepatitis Aplastic Anemia due to Hepatitis Bone marrow failure defined as pancytopenia, secondary to hepatitis. Aplastic anemia associated with a recent episode of hepatitis. C35466 Aplastic Anemia due to Infection C132009 C35069 Thalassemia Thalassemia An inherited blood disorder characterized by a decreased synthesis of one of the polypeptide chains that form hemoglobin. Anemia results from this abnormal hemoglobin formation. An inherited blood disorder characterized by a decreased synthesis of one of the polypeptide chains that form hemoglobin. Anemia results from this abnormal hemoglobin formation. C3092 Hemoglobinopathy C132009 C62605 Thrombotic Microangiopathy Thrombotic Microangiopathy The syndromes of microangiopathic hemolytic anemia, thrombocytopenia, and variable signs of organ impairment, due to platelet aggregation in the microcirculation. The syndromes of microangiopathic hemolytic anemia, thrombocytopenia, and variable signs of organ impairment, due to platelet aggregation in the microcirculation. C2902 Coagulation Disorder C132009 C131635 Tissue Factor Deficiency Tissue Factor Deficiency Factor III Deficiency A coagulation disorder characterized by the partial or complete absence of tissue factor (factor III) activity in the blood. A coagulation disorder characterized by the partial or complete absence of tissue factor (factor III) activity in the blood. C27215 Coagulation Factor Deficiency C132009 C39752 Refractory Disease Refractory Disease A disease that resists treatment. A disease that is not responsive to treatment. C3367 Finding C132009 C99026 Protein S Deficiency Disease Protein S Deficiency Disease A rare thrombophilia disorder characterized by deficiency of protein S. It results in venous thromboembolism. A thrombophilia disorder characterized by deficiency of protein S; it results in venous thromboembolism. C103172 Congenital Bleeding Disorder C84479 Thrombophilia C132009 C99025 Protein C Deficiency Disease Protein C Deficiency Disease A rare thrombophilia disorder characterized by deficiency of protein C. It results in venous thromboembolism. A thrombophilia disorder characterized by deficiency of protein C; it results in venous thromboembolism. C103172 Congenital Bleeding Disorder C84479 Thrombophilia C132009 C99037 Pyruvate Kinase Deficiency Pyruvate Kinase Deficiency Hemolytic Anemia due to Pyruvate Kinase Deficiency An inherited metabolic disorder characterized by the deficiency of the erythrocyte enzyme pyruvate kinase. It results in the development of hemolytic anemia. An autosomal recessive disorder caused by mutations of the PKLR gene. It is the most common inherited cause of non-spherocytic hemolytic anemia. C97090 Amino Acid Metabolism Disorder C131630 Anemia due to Erythrocyte Enzyme Disorder C132009 C131680 Partial Resection Partial Resection Incomplete Resection|Subtotal Resection Surgical removal of a part of a lesion; some portion of the lesion is detectable on post-operative evaluation. Surgical removal of a part of a lesion; some portion of the lesion is detectable on post-operative evaluation. C15329 Surgical Procedure C132009 C61230 Idiopathic Aplastic Anemia Idiopathic Aplastic Aplasia Aplastic anemia without a known cause. Aplastic anemia without a known cause. C2870 Aplastic Anemia C132009 C98940 Hereditary Factor X Deficiency Hereditary Factor X Deficiency A rare autosomal recessive inherited blood coagulation disorder characterized by deficiency of factor X, resulting in bleeding. An autosomal recessive, inherited coagulation disorder characterized by the partial or complete absence of factor X activity in the blood. C131632 Factor X Deficiency C98942 Hereditary Coagulation Factor Deficiency C132009 C37261 Hermansky-Pudlak Syndrome Hermansky-Pudlak Syndrome A group of autosomal recessive inherited disorders characterized by albinism, bleeding tendency, and lung disorders such as pulmonary fibrosis. A group of autosomal recessive, inherited disorders characterized by albinism, qualitative platelet defect, and lung disorders such as pulmonary fibrosis. C3101 Genetic Disorder C28193 Syndrome C132009 C35262 Hereditary Sideroblastic Anemia Hereditary Sideroblastic Anemia An inherited form of sideroblastic anemia. A form of anemia in which the bone marrow produces ringed sideroblasts (erythrocytes in which the iron granules are arranged in ring form within the mitochondria inside the nucleus) in place of mature erythrocytes, the cause if which is present from the time of birth. C35228 Congenital Anemia C36078 Sideroblastic Anemia C132009 C98941 Hereditary Factor XIII Deficiency Hereditary Factor XIII Deficiency A rare autosomal recessive inherited blood coagulation disorder characterized by deficiency of factor XIII, resulting in bleeding. An autosomal recessive, inherited coagulation disorder characterized by the partial or complete absence of factor XIII activity in the blood. C131633 Factor XIII Deficiency C98942 Hereditary Coagulation Factor Deficiency C132009 C131645 Hexokinase Deficiency Hexokinase Deficiency Erythrocyte Hexokinase Deficiency|HK1 Deficiency A rare, autosomal recessive, inherited disorder caused by mutation of the HK1 gene. It is characterized by the early-onset of severe, non-spherocytic hemolytic anemia. A rare, autosomal recessive, inherited disorder caused by mutation of the HK1 gene. It is characterized by the early-onset of severe, non-spherocytic hemolytic anemia. C131630 Anemia due to Erythrocyte Enzyme Disorder C132009 C131673 Immune-Mediated Coagulopathy Immune-Mediated Coagulopathy IMC|Immune-Mediated Coagulation Disorder Disorders of coagulation caused by autoantibodies generated against native coagulation factors or therapeutically-administered hemostatic agents. Disorders of coagulation caused by autoantibodies generated against native coagulation factors or therapeutically-administered hemostatic agents. C2902 Coagulation Disorder C132009 C36215 Immature Granulocytes in Peripheral Blood Increased Immature Granulocytes in Peripheral Blood Increased The presence of an increased number of granulocytic leukocytes, indicating an early-stage response to infection, inflammation, or neoplastic process. The presence of an increased number of granulocytic leukocytes, indicating an early-stage response to infection, inflammation, or neoplastic process. C36292 Laboratory Test Result C132009 C36252 Ineffective Hematopoiesis Ineffective Hematopoiesis A dysfunction in the production of blood cells, resulting in decreased numbers of mature, functioning blood cells of all lines in circulation. A dysfunction in the production of blood cells, resulting in decreased numbers of mature, functioning blood cells of all lines in circulation. C36289 Hematopoietic System Finding C132009 C42776 Immature Myeloid Cells Increased in Bone Marrow Immature Myeloid Cells Increased in Bone Marrow An increased number of myeloid precursors in the bone marrow. An increased number of myeloid precursors in the bone marrow. C36292 Laboratory Test Result C132009 C34380 Hypochromic Anemia Hypochromic Anemia Anemia caused by the reduction of hemoglobin in relation to the red cell volume. As a result, the red cells have an area of central pallor which is increased in size. The leading cause is iron deficiency. Anemia caused by the reduction of hemoglobin in relation to the red cell volume. As a result, the red cells have an area of central pallor which is increased in size. The leading cause is iron deficiency. C2869 Anemia C132009 C35287 Hemoglobin E Disease Hemoglobin E Disease A condition characterized by the presence of a variant of normal hemoglobin (hemoglobin E), which is caused by mutation(s) in the gene encoding the beta subunit of the hemoglobin molecule. An autosomal recessive disorder resulting from the production of hemoglobin E, secondary to an amino acid substitution of lysine for glutamic acid in the twenty-sixth position of the beta chain (E26K), and characterized by mild hemolytic anemia and possible splenomegaly. C3092 Hemoglobinopathy C132009 C35344 Hemoglobin D Disease Hemoglobin D Disease A condition characterized by the presence of a variant of normal hemoglobin (hemoglobin D), which is caused by mutation(s) in the gene encoding the beta subunit of the hemoglobin molecule. An autosomal recessive disorder resulting from the production of hemoglobin D, secondary to various substitution mutations in the beta chain, and characterized by mild hemolytic anemia and possible splenomegaly. Multiple subtypes of hemoglobin D have been identified. C3092 Hemoglobinopathy C132009 C34675 Hemoglobin C Disease Hemoglobin C Disease An autosomal recessive hemoglobinopathy with a mild clinical course. Most patients are asymptomatic. When symptoms appear, they include mild hemolytic anemia and occasionally jaundice. An autosomal recessive disorder resulting from the production of hemoglobin C, secondary to an amino acid substitution of lysine for glutamic acid in the sixth position of the beta chain (E6K), and characterized by mild hemolytic anemia and occasionally jaundice, though most patients are asymptomatic. C3092 Hemoglobinopathy C132009 C98837 Sickle Beta Plus Thalassemia Sickle Beta Plus Thalassemia A mild form of sickle cell thalassemia characterized by the presence of hemoglobin S and a small amount of hemoglobin A in the red blood cells. It is characterized by the presence of small red blood cells and mild anemia. A mild form of sickle cell thalassemia characterized by the presence of hemoglobin S and a small amount of hemoglobin A in the erythrocytes. It is characterized by the presence of small erythrocytes and milder clinical phenotype. C61237 Sickle Cell-Thalassemia C132009 C39800 Sickle Cell Trait Sickle Cell Trait An individual who is heterozygous for the mutation that causes sickle cell anemia. A condition in which the individual is heterozygous for the beta globin gene, displaying one normal and one abnormal allele (hemoglobin S mutation). The individual almost never displays symptoms of sickle cell anemia, but may manifest symptoms if the body experiences significant physical stress, including severe illness or prolonged hypoxemia. The trait has been found to be protective against contracting malaria. C95534 Hemoglobin Trait C132009 C36078 Sideroblastic Anemia Sideroblastic Anemia Anemia characterized by the production of ringed sideroblasts instead of healthy red blood cells. A form of anemia in which the bone marrow produces ringed sideroblasts (erythrocytes in which the iron granules are arranged in ring form within the mitochondria inside the nucleus) in place of mature erythrocytes. C2869 Anemia C132009 C81288 S-Beta Thalassemia S-Beta Thalassemia A disorder characterized by the body's inability to synthesize beta-globin chains, leading to the formation of abnormal hemoglobin and anemia. This inherited autosomal recessive blood disorder is caused by germline mutation of the HBB gene. A heterozygous state in which a person has a loss of function mutation in one beta globin allele together with a hemoglobin S allele. C35069 Thalassemia C132009 C34381 Macrocytic Anemia Macrocytic Anemia Anemia that is characterized by increased red blood cell volume. Anemia characterized by larger than normal erythrocytes with a mean corpuscular volume (MCV) greater than 100 femtoliters. The threshold value is greater in infancy. C2869 Anemia C132009 C97058 Mixed Congenital Mesoblastic Nephroma Mixed Congenital Mesoblastic Nephroma A congenital mesoblastic nephroma characterized by the presence of classic and cellular areas. A congenital, mesoblastic nephroma that is characterized by the presence of classic and cellular areas. C6569 Congenital Mesoblastic Nephroma C132009 C131678 Mismatched Unrelated Donor Mismatched Unrelated Donor MMUD|Mismatched Non-Related Donor, Mismatched Donor A donor who is not related to the transplant recipient, and who is not a human leukocyte antigen (HLA) tissue type match at one or more of the following loci: HLA-A, HLA-B, HLA-C, and HLA-DRB1. A donor who is not related to the transplant recipient, and who is not a human leukocyte antigen (HLA) tissue type match at one or more of the following loci: HLA-A, HLA-B, HLA-C, and HLA-DRB1. C25190 Person C132009 C35141 Microcytic Anemia Microcytic Anemia Anemia in which the red blood cell volume is decreased. A form of anemia in which the erythrocytes are smaller than normal, and are usually hypochromic. Iron deficiency is one of the most common causes. C2869 Anemia C132009 C3185 Leukemoid Reaction Leukemoid Reaction A hematology test result that indicates the presence of an increased white blood cell count and increased neutrophil precursors resembling leukemia, in a peripheral blood smear. A hematology test result that indicates the presence of an increased white blood cell count and increased neutrophil precursors, in a peripheral blood smear. C36292 Laboratory Test Result C35524 Leukocytosis C132009 C131676 Matched Unrelated Donor Matched Unrelated Donor MUD|Matched Non-Related Donor A donor who is not related to the transplant recipient, but who is a human leukocyte antigen (HLA) tissue type match. A donor who is not related to the transplant recipient, but who is a human leukocyte antigen (HLA) tissue type match. C25190 Person C132009 C35343 Drug-Induced Aplastic Anemia Drug-Induced Aplastic Anemia A state of bone marrow suppression and failure that is caused by a cytotoxic or adverse immunologic response to a drug treatment, leading to a failure of production of red blood cells, white cells and platelets. Aplastic anemia caused by a drug treatment or exposure. C2870 Aplastic Anemia C132009 C70613 Drug/Toxin-Induced Aplastic Anemia Drug/Toxin-Induced Aplastic Anemia Bone marrow failure defined as pancytopenia, due to exposure to a known toxin or drug. Aplastic anemia caused by exposure to a toxin or drug. C2870 Aplastic Anemia C132009 C131641 Erythrocyte Enolase Deficiency Erythrocyte Enolase Deficiency Alpha-Enolase Deficiency|Phosphopyruvate Hydratase Deficiency A rare, autosomal dominant, inherited disorder caused by mutation of the ENO1 gene. It is associated with spherocytic hemolytic anemia, exercise-induced myalgia and weakness. A rare, autosomal dominant, inherited disorder caused by mutation of the ENO1 gene. It is associated with spherocytic hemolytic anemia, exercise-induced myalgia and weakness. C131630 Anemia due to Erythrocyte Enzyme Disorder C132009 C61284 Evans Syndrome Evans Syndrome A rare, chronic and relapsing autoimmune disorder of unknown etiology, characterized by the presence of immune thrombocytopenia and autoimmune hemolytic anemia. An autoimmune disorder of unknown etiology that is characterized by the presence of immune thrombocytopenia and autoimmune hemolytic anemia. C2889 Autoimmune Disease C28193 Syndrome C132009 C35142 Normocytic Anemia Normocytic Anemia Anemia in which the red blood cell volume is normal. A form of anemia in which the erythrocytes are of normal size, but with a decrease in hemoglobin. C2869 Anemia C132009 C131679 Myeloablative Conditioning Myeloablative Conditioning Myeloablation|Myeloablative Cytoreduction A conditioning regimen with high doses of chemotherapy or radiation to eliminate host hematopoietic stem cells prior to restitution via transplantation. A conditioning regimen with high doses of chemotherapy or radiation to eliminate host hematopoietic stem cells prior to restitution via transplantation. C49236 Therapeutic Procedure C132009 C123849 Childhood Ovarian Mixed Germ Cell Tumor Childhood Ovarian Mixed Germ Cell Tumor A mixed germ cell tumor that arises from the ovary and occurs in children. A mixed germ cell tumor that arises from the ovary during childhood. C68629 Childhood Malignant Ovarian Germ Cell Tumor C123848 Childhood Mixed Germ Cell Tumor C132009 C118819 Childhood Parathyroid Gland Carcinoma Childhood Parathyroid Gland Carcinoma A rare carcinoma of the parathyroid gland that occurs during childhood. A rare carcinoma of the parathyroid gland that occurs during childhood. C9305 Cancer C132009 C118817 Childhood Nasal Cavity Carcinoma Childhood Nasal Cavity Carcinoma A rare carcinoma of the nasal cavity that occurs during childhood. A rare carcinoma of the nasal cavity that occurs during childhood. C9305 Cancer C132009 C124137 Childhood Pineal Parenchymal Tumor of Intermediate Differentiation Childhood Pineal Parenchymal Tumor of Intermediate Differentiation A pineal parenchymal tumor of intermediate differentiation that occurs during childhood. A pineal parenchymal tumor of intermediate differentiation that occurs during childhood. C115196 Childhood Pineal Parenchymal Cell Neoplasm C132009 C123397 Childhood Spindle Cell Rhabdomyosarcoma Childhood Spindle Cell Rhabdomyosarcoma A spindle cell rhabdomyosarcoma occurring in children. A spindle cell rhabdomyosarcoma occurring in children. C7705 Childhood Rhabdomyosarcoma C6519 Spindle Cell Rhabdomyosarcoma C132009 C2941 Chediak-Higashi Syndrome Chediak-Higashi Syndrome A rare autosomal recessive immunodeficiency disorder characterized by abnormal intracellular protein transport. Chediak-Higashi syndrome (CHS) is characterized by immune deficiency; partial oculocutaneous albinism; a bleeding disorder due to deficient platelet dense bodies; neutropenia; neutrophils with impaired chemotaxis and bactericidal activity; recurrent infection; and abnormal natural killer (NK) cell function. CHS may be associated with hepatosplenomegaly, lymphadenopathy, anemia, thrombocytopenia, roentgenologic changes in bones, lungs and heart, and skin and psychomotor abnormalities; it is often fatal in childhood as a result of infection or an accelerated lymphoma-like phase. CHS occurs in mink, cattle, and mice, as well as man. An autosomal recessive syndrome characterized by immune deficiency, partial oculocutaneous albinism, a bleeding disorder due to deficient platelet dense bodies, neutropenia, neutrophils with impaired chemotaxis and bactericidal activity, recurrent infection, and abnormal natural killer (NK) cell function. C3507 Immune System Disorder C132009 C124291 Childhood Atypical Choroid Plexus Papilloma Childhood Atypical Choroid Plexus Papilloma An atypical choroid plexus papilloma that occurs during childhood. An atypical choroid plexus papilloma that occurs during childhood. C42080 Childhood Choroid Plexus Neoplasm C132009 C118812 Childhood Esophageal Carcinoma Childhood Esophageal Carcinoma A rare carcinoma of the esophagus that occurs during childhood. A rare carcinoma of the esophagus that occurs during childhood. C9305 Cancer C132009 C123848 Childhood Mixed Germ Cell Tumor Childhood Mixed Germ Cell Tumor A mixed germ cell tumor occurring in children. A mixed germ cell tumor that occurs in children. C7928 Childhood Germ Cell Tumor C132009 C123847 Childhood Embryonal Carcinoma Childhood Embryonal Carcinoma An embryonal carcinoma occurring in children. An embryonal carcinoma occurring in children. C123841 Childhood Non-Germinomatous Germ Cell Tumor C132009 C123932 Childhood Small Intestinal Leiomyosarcoma Childhood Small Intestine Leiomyosarcoma A small intestinal leiomyosarcoma occurring in childhood. A small intestinal leiomyosarcoma occurring during childhood. C8093 Childhood Leiomyosarcoma C132009 C118811 Childhood Laryngeal Carcinoma Childhood Laryngeal Carcinoma A rare carcinoma of the larynx that occurs during childhood. A rare carcinoma of the larynx that occurs during childhood. C9305 Cancer C132009 C124270 Childhood Neuroblastoma Childhood Neuroblastoma A neuroblastoma that occurs during childhood. A neuroblastoma that occurs during childhood. C3270 Neuroblastoma C132009 C123844 Childhood Choriocarcinoma Childhood Choriocarcinoma A choriocarcinoma occurring in children. A choriocarcinoma occurring in children. C123841 Childhood Non-Germinomatous Germ Cell Tumor C132009 C118818 Childhood Paranasal Sinus Carcinoma Childhood Paranasal Sinus Carcinoma A rare carcinoma of the paranasal sinus that occurs during childhood. A rare carcinoma of the paranasal sinus that occurs during childhood. C9305 Cancer C132009 C123837 Childhood Testicular Mature Teratoma Childhood Testicular Mature Teratoma A mature teratoma that arises from the testis and occurs in children. A mature teratoma that arises from the testis during childhood. C123836 Childhood Mature Teratoma C6540 Childhood Testicular Teratoma C132009 C123838 Childhood Germinomatous Germ Cell Tumor Childhood Germinomatous Germ Cell Tumor A germinomatous germ cell tumor occurring in children. A germinomatous germ cell tumor occurring in children. C7928 Childhood Germ Cell Tumor C132009 C118810 Childhood Carcinoid Tumor Childhood Carcinoid Tumor A rare carcinoid tumor that occurs during childhood. A carcinoid tumor that occurs during childhood. C3809 Neuroendocrine Tumor C132009 C118809 Childhood Breast Carcinoma Childhood Breast Carcinoma A rare breast carcinoma that occurs during childhood. A rare breast carcinoma that occurs during childhood. C4872 Breast Cancer C132009 C123836 Childhood Mature Teratoma Childhood Mature Teratoma A mature teratoma occurring in children. A mature teratoma occurring in children. C68626 Childhood Teratoma C132009 C124293 Childhood Anaplastic Ependymoma Childhood Anaplastic Ependymoma An anaplastic ependymoma that occurs during childhood. An anaplastic ependymoma that occurs during childhood. C115192 Childhood Ependymal Tumor C5448 Malignant Childhood Central Nervous System Neoplasm C132009 C123933 Childhood Small Intestinal Carcinoma Childhood Small Intestinal Carcinoma A small intestinal carcinoma occurring in childhood. A small intestinal carcinoma occurring during childhood. C9305 Cancer C132009 C123834 Childhood Immature Teratoma Childhood Immature Teratoma An immature teratoma occurring in children. An immature teratoma occurring in children. C68626 Childhood Teratoma C132009 C118808 Childhood Colorectal Carcinoma Childhood Colorectal Carcinoma A rare colorectal carcinoma that occurs during childhood. A colorectal carcinoma occurring during childhood. C9305 Cancer C132009 C123392 Childhood Lymphomatoid Granulomatosis Childhood Lymphomatoid Granulomatosis Lymphomatoid granulomatosis that occurs during childhood. An Epstein-Barr virus-associated B-cell lymphoproliferative disorder in children that nearly always affects the lungs, with skin involvement in 50% of the cases. Morphologically, three grades are recognized: grade I, II, and III. C26323 Hematologic Disorder C132009 C123835 Childhood Testicular Immature Teratoma Childhood Testicular Immature Teratoma An immature teratoma that arises from the testis and occurs in children. An immature teratoma that arises from the testis during childhood. C123834 Childhood Immature Teratoma C68628 Childhood Malignant Testicular Germ Cell Tumor C132009 C118824 Childhood Salivary Gland Carcinoma Childhood Salivary Gland Carcinoma A rare carcinoma of the salivary gland that occurs during childhood. A rare carcinoma of the salivary gland that occurs during childhood. C9305 Cancer C132009 C124292 Childhood Choroid Plexus Carcinoma Childhood Choroid Plexus Carcinoma A choroid plexus carcinoma that occurs during childhood. A choroid plexus carcinoma that occurs during childhood. C42080 Childhood Choroid Plexus Neoplasm C132009 C124269 Childhood Myxopapillary Ependymoma Childhood Myxopapillary Ependymoma A myxopapillary ependymoma that occurs during childhood. A myxopapillary ependymoma that occurs during childhood. C115192 Childhood Ependymal Tumor C132009 C123398 Childhood Periosteal Osteosarcoma Childhood Periosteal Osteosarcoma A periosteal osteosarcoma occurring in childhood. A periosteal osteosarcoma occurring during childhood. C6585 Childhood Osteosarcoma C132009 C124271 Childhood Ganglioneuroblastoma Childhood Ganglioneuroblastoma A ganglioneuroblastoma that occurs during childhood. A ganglioneuroblastoma that occurs during childhood. C124270 Childhood Neuroblastoma C132009 C123396 Childhood Langerhans Cell Histiocytosis without Risk Organ Involvement Childhood Langerhans Cell Histiocytosis without Risk Organ Involvement Langerhans cell histiocytosis that occurs during childhood and does not involve the bone marrow, spleen, liver, or lung. Langerhans cell histiocytosis that occurs during childhood, and which does not involve the bone marrow, spleen, liver, or lung. C114483 Childhood Langerhans Cell Histiocytosis C132009 C123395 Childhood Langerhans Cell Histiocytosis with Risk Organ Involvement Childhood Langerhans Cell Histiocytosis with Risk Organ Involvement Langerhans cell histiocytosis that occurs during childhood and involves the bone marrow, spleen, liver, or lung. Langerhans cell histiocytosis that occurs during childhood, and involves the bone marrow, spleen, liver, or lung. C114483 Childhood Langerhans Cell Histiocytosis C132009 C35228 Congenital Anemia Congenital Anemia Anemia, the cause of which is present at birth. Any form of anemia for which the cause is present from birth. C104003 Congenital Hematological Disorder C132009 C131657 Congenital Thrombotic Thrombocytopenic Purpura Congenital Thrombotic Thrombocytopenic Purpura Congenital ADAMTS13 Deficiency|Congenital TTP Thrombotic thrombocytopenic purpura for which the cause is present from birth. Thrombotic thrombocytopenic purpura for which the cause is present from birth. C78797 Thrombotic Thrombocytopenic Purpura C132009 C99108 Vitamin K Deficiency Vitamin K Deficiency Vitamin K Deficiency Coagulation Disorder Deficiency of vitamin K. It may lead to bleeding, manifested with ecchymoses, petechiae, and hematomas. In infants it may cause hemorrhagic disease of newborn with intracranial and retroperitoneal bleeding. Depletion of fat-soluble vitamin K stores. C27215 Coagulation Factor Deficiency C35772 Vitamin Deficiency Disorder C132009 C122602 Bone Marrow and Extramedullary Involvement Bone Marrow and Extramedullary Involvement Marrow and Extramedullary Involvement A finding indicating the involvement of the bone marrow and other anatomic sites, which may include the peripheral blood, lymph nodes, and/or extranodal sites, by a hematopoietic neoplasm. A finding indicating the involvement of the bone marrow and other anatomic sites, which may include the peripheral blood, lymph nodes, and/or extranodal sites, by a hematopoietic neoplasm. C36289 Hematopoietic System Finding C132009 C131643 Glucose Phosphate Isomerase Deficiency Glucose Phosphate Isomerase Deficiency Glucose-6-Phosphate Isomerase Deficiency A rare, autosomal recessive, inherited disorder caused by mutation of the GPI gene. It is characterized by chronic, non-spherocytic hemolytic anemia. A rare, autosomal recessive, inherited disorder caused by mutation of the GPI gene. It is characterized by chronic, non-spherocytic hemolytic anemia. C131630 Anemia due to Erythrocyte Enzyme Disorder C132009 C131665 Factor VII Inactivation Factor VII Inactivation Factor VII Inhibitor Present Presence of inactivating antibodies to factor VII in the blood. Presence of inactivating antibodies to factor VII in the blood. C131625 Acquired Factor VII Deficiency C132009 C131661 Factor II Inactivation Factor II Inactivation Factor II Inhibitor Present Presence of inactivating antibodies to prothrombin (factor II) in the blood. Presence of inactivating antibodies to prothrombin (factor II) in the blood. C131622 Acquired Factor II Deficiency C132009 C131668 Factor XI Inactivation Factor XI Inactivation Factor XI Inhibitor Present Presence of inactivating antibodies to factor XI in the blood. Presence of inactivating antibodies to factor XI in the blood. C131627 Acquired Factor XI Deficiency C132009 C131666 Factor VIII Inactivation Factor VIII Inactivation Factor VIII Inhibitor Present Presence of inactivating antibodies to factor VIII in the blood. Presence of inactivating antibodies to factor VIII in the blood. C35345 Acquired Factor VIII Deficiency C132009 C131664 Factor V Inactivation Factor V Inactivation Factor V Inhibitor Present Presence of inactivating antibodies to factor V in the blood. Presence of inactivating antibodies to factor V in the blood. C131624 Acquired Factor V Deficiency C132009 C131660 Factor I Inactivation Factor I Inactivation Factor I Inhibitor Present Presence of inactivating antibodies to fibrinogen (factor I) in the blood. Presence of inactivating antibodies to fibrinogen (factor I) in the blood. C131621 Acquired Factor I Deficiency C132009 C131669 Factor XII Inactivation Factor XII Inactivation Factor XII Inhibitor Present Presence of inactivating antibodies to factor XII in the blood. Presence of inactivating antibodies to factor XII in the blood. C131628 Acquired Factor XII Deficiency C132009 C131667 Factor X Inactivation Factor X Inactivation Factor X Inhibitor Present Presence of inactivating antibodies to factor X in the blood. Presence of inactivating antibodies to factor X in the blood. C131626 Acquired Factor X Deficiency C132009 C131670 Factor XIII Inactivation Factor XIII Inactivation Factor XIII Inhibitor Present Presence of inactivating antibodies to factor XIII in the blood. Presence of inactivating antibodies to factor XIII in the blood. C131629 Acquired Factor XIII Deficiency C132009 C131663 Factor IX Inactivation Factor IX Inactivation Factor IX Inhibitor Present Presence of inactivating antibodies to factor IX in the blood. Presence of inactivating antibodies to factor IX in the blood. C35440 Acquired Factor IX Deficiency C132009 C122601 Extramedullary Involvement Extramedullary Involvement A finding indicating the involvement of sites other than the bone marrow by a hematopoietic neoplasm. A finding indicating the involvement of sites other than the bone marrow by a hematopoietic neoplasm. C36289 Hematopoietic System Finding C132009 C99382 Autoimmune Cytopenia Autoimmune Cytopenia Cytopenia caused by autoantibodies against the red blood cells, neutrophils, and/or platelets. Cytopenia caused by autoantibodies against the red blood cells, neutrophils, and/or platelets. C2889 Autoimmune Disease C132009 C95535 Alpha Thalassemia Trait Alpha Thalassemia Trait A condition in which a person has reduced protein production from two of the four alpha-globin alleles. A condition in which a person has reduced protein production from two of the four alpha-globin genes. Newborn screening may be positive for Barts hemoglobin. C95534 Hemoglobin Trait C132009 C95536 Alpha Thalassemia Silent Carrier Alpha Thalassemia Silent Carrier A condition in which a person has reduced protein production from one of the four alpha-globin alleles. A condition in which a person has reduced protein production from one of the four alpha-globin genes. C95534 Hemoglobin Trait C132009 C98805 Acquired Methemoglobinemia Acquired Methemoglobinemia Methemoglobinemia that is caused by exposure to certain drugs (xylocaine and benzene) and nitrate-rich foods. Methemoglobinemia that is caused by exposure to certain drugs, including dapsone and xylocaine, and nitrate-rich foods. C34817 Methemoglobinemia C132009 C131623 Acquired Factor III Deficiency Acquired Factor III Deficiency Acquired Tissue Factor Deficiency An acquired coagulation disorder characterized by the partial or complete absence of tissue factor (factor III) activity in the blood. An acquired coagulation disorder characterized by the partial or complete absence of tissue factor (factor III) activity in the blood. C34347 Acquired Coagulation Factor Deficiency C131635 Tissue Factor Deficiency C132009 C95538 Beta Thalassemia Plus Structural Variants Beta Thalassemia Plus Structural Variants A heterozygous state in which a person has a mutation in a beta globin allele causing beta thalassemia, together with other structural variants in the other allele. A heterozygous state in which a person has a loss of function mutation in one beta globin allele together with an unstable variant in the other allele. C35069 Thalassemia C132009 C122714 Testicular Involvement Testicular Involvement A finding indicating the involvement of the testis by a malignant neoplasm. A finding indicating the involvement of the testis by a malignant neoplasm. C36284 Reproductive System Finding C132009 C131683 Transient Erythroblastopenia of Childhood Transient Erythroblastopenia of Childhood TEC An acquired pure red cell aplasia that is self-limited. It is the most common cause of decreased red blood cell production in the pediatric population, and typically presents as a normocytic anemia with reticulocytopenia in an otherwise asymptomatic and normal child with no evidence of other causes for anemia, including blood loss, hemolysis, nutritional deficiency, or malignancy. An acquired pure red cell aplasia that is self-limited. It is the most common cause of decreased red blood cell production in the pediatric population, and typically presents as a normocytic anemia with reticulocytopenia in an otherwise asymptomatic and normal child with no evidence of other causes for anemia, including blood loss, hemolysis, nutritional deficiency, or malignancy. C70548 Acquired Pure Red Cell Aplasia C132009 C131500 Recurrent Primary Malignant Neoplasm Recurrent Primary Malignancy The reemergence of a primary malignant neoplasm after a period of remission. The return of an original malignancy after a period of remission. C38155 Recurrent Disease C132009 C131647 Phosphoglycerate Mutase Deficiency Phosphoglycerate Mutase Deficiency Glycogen Storage Disease X A rare, autosomal recessive, inherited disorder caused by mutation of the PGAM2 gene. It is characterized by non-spherocytic hemolytic anemia, exercise-induced cramping, myoglobinuria, and presence of tubular aggregates on muscle biopsy. A rare, autosomal recessive, inherited disorder caused by mutation of the PGAM2 gene. It is characterized by non-spherocytic hemolytic anemia, exercise-induced cramping, myoglobinuria, and presence of tubular aggregates on muscle biopsy. C131630 Anemia due to Erythrocyte Enzyme Disorder C132009 C131681 Platelet-Type von Willebrand Disease Platelet-Type von Willebrand Disease Pseudo-von Willebrand Disease A rare autosomal dominant bleeding disorder characterized by abnormally enhanced binding of von Willebrand factor (VWF) by the platelet glycoprotein Ib receptor complex. Hemostatic function is impaired due to the removal of VWF multimers from the circulation. It is due to a mutation in the gene encoding for platelet glycoprotein Ib alpha, resulting in enhanced affinity for VWF. It is often misdiagnosed as type 2B von Willebrand disease due to similarities between these two conditions. Patients present with a mild thrombocytopenia with large platelets. Platelet aggregates are often visible in blood smears. A rare autosomal dominant bleeding disorder characterized by abnormally enhanced binding of von Willebrand factor (VWF) by the platelet glycoprotein Ib receptor complex. Hemostatic function is impaired due to the removal of VWF multimers from the circulation. It is due to a mutation in the gene encoding for platelet glycoprotein Ib alpha, resulting in enhanced affinity for VWF. It is often misdiagnosed as type 2B von Willebrand disease due to similarities between these two conditions. Patients present with a mild thrombocytopenia with large platelets. Platelet aggregates are often visible in blood smears. C68677 von Willebrand Disease C132009 C98943 Hereditary Pyropoikilocytosis Hereditary Pyropoikilocytosis An autosomal recessive inherited severe hemolytic anemia. It is a subtype of hereditary elliptocytosis and is characterized by partial spectrin deficiency. An autosomal recessive disorder that produces a molecular defect in spectrin and a partial spectrin deficiency. It manifests as a severe hemolytic anemia in infancy with thermal instability of the erythrocytes. It is clinically similar to, and now considered a subtype of, homozygous hereditary elliptocytosis. C104003 Congenital Hematological Disorder C35882 Hereditary Elliptocytosis C132009 C97074 Hereditary Spherocytosis Hereditary Spherocytosis An autosomal dominant inherited disorder characterized by the presence of smaller than normal, sphere-shaped erythrocytes. It results in hemolytic anemia and splenomegaly. An autosomal dominant inherited disorder characterized by the presence of smaller than normal, sphere-shaped erythrocytes, resulting in hemolytic anemia and splenomegaly. Mutations in ANK1 account for over half of the cases. C101218 Hemolytic Anemia due to Erythrocyte Membrane Defect C132009 C98946 High Molecular Weight Kininogen Deficiency High Molecular Weight Kininogen Deficiency A rare autosomal recessive inherited disorder characterized by prolonged partial thromboplastin time and absence of bleeding diathesis. An autosomal recessive, inherited disorder characterized by deficiency of high molecular weight kininogen. Its clinical features include prolonged partial thromboplastin time and absence of bleeding diathesis. C2902 Coagulation Disorder C27215 Coagulation Factor Deficiency C132009 C98939 Hereditary Factor VII Deficiency Hereditary Factor VII Deficiency A rare autosomal recessive inherited blood coagulation disorder characterized by deficiency of factor VII, resulting in bleeding. An autosomal recessive, inherited coagulation disorder characterized by the partial or complete absence of factor VII activity in the blood. C131631 Factor VII Deficiency C98942 Hereditary Coagulation Factor Deficiency C132009 C98937 Hereditary Factor I Deficiency Hereditary Factor I Deficiency An inherited blood coagulation disorder characterized by the partial or complete absence of fibrinogen in the blood, resulting in bleeding. An autosomal recessive, inherited coagulation disorder characterized by the partial or complete absence of fibrinogen (factor I) activity in the blood. C98942 Hereditary Coagulation Factor Deficiency C132009 C131644 Hereditary Factor III Deficiency Hereditary Factor III Deficiency Hereditary Tissue Factor Deficiency An autosomal recessive, inherited coagulation disorder characterized by the partial or complete absence of tissue factor (factor III) activity in the blood. An autosomal recessive, inherited coagulation disorder characterized by the partial or complete absence of tissue factor (factor III) activity in the blood. C98942 Hereditary Coagulation Factor Deficiency C131635 Tissue Factor Deficiency C132009 C98942 Hereditary Coagulation Factor Deficiency Hereditary Coagulation Factor Deficiency An inherited blood coagulation disorder characterized by deficiency of one of the coagulation factors, resulting in bleeding. An inherited coagulation disorder characterized by deficiency of one of the coagulation factors. C27215 Coagulation Factor Deficiency C103172 Congenital Bleeding Disorder C132009 C131674 Infantile Pyknocytosis Infantile Pyknocytosis Hereditary Pyknocytosis A rare, neonatal syndrome characterized by early jaundice that becomes rapidly associated with severe hemolytic anemia. The peripheral blood smear is remarkable for small irregular, contracted red blood cells with hyper-dense spikes (pyknocytes), that progressively increase in number and then spontaneously disappear. A rare, neonatal syndrome characterized by early jaundice that becomes rapidly associated with severe hemolytic anemia. The peripheral blood smear is remarkable for small irregular, contracted red blood cells with hyper-dense spikes (pyknocytes), that progressively increase in number and then spontaneously disappear. C101218 Hemolytic Anemia due to Erythrocyte Membrane Defect C132009 C84484 Iron-Deficiency Anemia Iron-Deficiency Anemia Anemia caused by low iron intake, inefficient iron absorption in the gastrointestinal tract, or chronic blood loss. Anemia caused by inadequate bioavailable iron. C34380 Hypochromic Anemia C132009 C95504 Hemoglobin H Disease Hemoglobin H Disease A form of alpha thalassemia that results from reduced protein production from three of the four alpha-globin genes. Clinically it is characterized by chronic hemolytic anemia. A form of alpha thalassemia that results from reduced protein production from three of the four alpha-globin genes. Clinically it is characterized by chronic hemolytic anemia. C34368 Alpha Thalassemia C132009 C95534 Hemoglobin Trait Hemoglobin Trait A condition in which a person is heterozygous for a globin gene, with a one normal allele and one defective allele. A condition in which a person has a combination of normal and abnormal globin alleles with minimal or no clinical phenotype. C3092 Hemoglobinopathy C132009 C131650 Sebastian Syndrome Sebastian Syndrome Sebastian Platelet Syndrome An autosomal dominant disorder characterized by the triad of thrombocytopenia, giant platelets, and characteristic inclusions in peripheral blood leukocytes, without other organ dysfunction; it is associated with mutation of the MYH9 gene. An autosomal dominant disorder characterized by the triad of thrombocytopenia, giant platelets, and characteristic inclusions in peripheral blood leukocytes, without other organ dysfunction; it is associated with mutation of the MYH9 gene. C131634 Platelet Abnormality C28193 Syndrome C132009 C131640 Erythrocyte Adenylate Kinase Deficiency Erythrocyte Adenylate Kinase Deficiency Red Cell Adenylate Kinase Deficiency An autosomal recessive disorder caused by mutation of the AK1 gene. It is associated with moderate to severe non-spherocytic hemolytic anemia and, in some cases, with intellectual disability and psychomotor impairment. An autosomal recessive disorder caused by mutation of the AK1 gene. It is associated with moderate to severe non-spherocytic hemolytic anemia and, in some cases, with intellectual disability and psychomotor impairment. C131630 Anemia due to Erythrocyte Enzyme Disorder C132009 C123405 Multi-Organ Involvement Multi-Organ Involvement A finding indicating the spread of a neoplastic process to multiple organs. A finding indicating the spread of a neoplastic process to multiple organs. C3367 Finding C132009 C131506 Childhood Melanoma Childhood Melanoma A melanoma that occurs during childhood. A melanoma that occurs during childhood. C3224 Melanoma C132009 C98898 Congenital Methemoglobinemia Congenital Methemoglobinemia Methemoglobinemia inherited in an autosomal recessive pattern. It is caused by deficiency of the enzyme NADH methemoglobin reductase or the presence of abnormal hemoglobin M. It presents with cyanosis early in life. There is no evidence of cardiopulmonary disease present. Methemoglobinemia inherited in an autosomal recessive pattern. It is caused by deficiency of the enzyme NADH methemoglobin reductase or the presence of abnormal hemoglobin M. It presents with cyanosis early in life. There is no evidence of cardiopulmonary disease present. C104003 Congenital Hematological Disorder C34817 Methemoglobinemia C132009 C84646 Congenital Dyserythropoietic Anemia Congenital Dyserythropoietic Anemia A rare congenital anemia caused by mutations in the CDAN1 and SEC23B genes. A rare group of disorders that result in anemia that is caused by ineffective erythropoiesis, which is associated with multinuclear erythroblasts, and which may present in childhood. The most common mutations are in the CDAN1 and SEC23B genes. C35228 Congenital Anemia C132009 C89161 Congenital Amegakaryocytosis Congenital Amegakaryocytosis A rare disorder of infancy characterized by marked reduction or absence of megakaryocytes and thrombocytopenia. A rare disorder of infancy characterized by a marked reduction in, or a complete absence of, megakaryocytes, and thrombocytopenia. C104003 Congenital Hematological Disorder C132009 C131658 Consumptive Coagulopathy Consumptive Coagulopathy Consumption Coagulopathy Disorders of coagulation caused by the depletion of coagulation factors in the peripheral blood. Disorders of coagulation caused by the depletion of coagulation factors in the peripheral blood. C2902 Coagulation Disorder C132009 C131684 Vitamin B12 Deficiency Vitamin B12 Deficiency Hypocobalaminemia Low serum levels of vitamin B12 (cobalamin) due to poor intestinal absorption, decreased dietary intake, or increased physiologic requirement. Low serum levels of vitamin B12 (cobalamin) due to poor intestinal absorption, decreased dietary intake, or increased physiologic requirement. C35772 Vitamin Deficiency Disorder C132009 C131689 von Willebrand Disease, Type 2N von Willebrand Disease, Type 2N von Willebrand Disease Normandy Variant An autosomally inherited (generally recessive) coagulation disorder characterized by qualitative abnormalities of the von Willebrand factor (VWF). The mutant VWF shows markedly decreased binding affinity for factor VIII, which can be confused with mild hemophilia A. The phenotype is characterized by a disproportionate decrease in factor VIII compared to VWF. An autosomally inherited (generally recessive) coagulation disorder characterized by qualitative abnormalities of the von Willebrand factor (VWF). The mutant VWF shows markedly decreased binding affinity for factor VIII, which can be confused with mild hemophilia A. The phenotype is characterized by a disproportionate decrease in factor VIII compared to VWF. C68677 von Willebrand Disease C132009 C85213 von Willebrand Disease, Type 3 von Willebrand Disease, Type 3 The most severe form of von Willebrand disease, inherited in an autosomal recessive pattern. It is characterized by marked deficiency or absence of von Willebrand factor in the plasma and platelets, and low plasma levels of factor VIII. It may cause severe bleeding. The most severe form of von Willebrand disease, it is inherited in an autosomal recessive pattern, and is characterized by marked deficiency or absence of von Willebrand factor in the plasma and platelets, and low plasma levels of factor VIII; it may cause severe bleeding. C68677 von Willebrand Disease C132009 C98815 Antithrombin III Deficiency Antithrombin III Deficiency A rare disorder characterized by the presence of low levels of antithrombin III which prohibits the formation of blood clots. It may be inherited, usually in an autosomal dominant pattern, or acquired. It may lead to venous thrombosis and pulmonary embolism. A rare disorder characterized by the presence of low levels of antithrombin III which prohibits the formation of blood clots. It may be inherited, usually in an autosomal dominant pattern, or acquired. It may lead to venous thrombosis and pulmonary embolism. C2902 Coagulation Disorder C132009 C131638 Bisphosphoglycerate Mutase Deficiency Bisphosphoglycerate Mutase Deficiency Diphosphoglycerate Phosphatase Deficiency A rare, autosomal recessive, inherited disorder caused by mutation of the BPGM gene. It is characterized by hemolytic anemia and splenomegaly. A rare, autosomal recessive, inherited disorder caused by mutation of the BPGM gene. It is characterized by hemolytic anemia and splenomegaly. C131630 Anemia due to Erythrocyte Enzyme Disorder C132009 C131672 Gross Total Resection Gross Total Resection Surgical removal of an entire visible lesion, with no obvious lesion detected on post-operative evaluation; microscopic residual disease may be present. Surgical removal of an entire visible lesion, with no obvious lesion detected on post-operative evaluation; microscopic residual disease may be present. C15329 Surgical Procedure C132009 C131738 Factor V Deficiency Factor V Deficiency A coagulation disorder characterized by the partial or complete absence of factor V activity in the blood. A coagulation disorder characterized by the partial or complete absence of factor V activity in the blood. C27215 Coagulation Factor Deficiency C132009 C131737 Factor II Deficiency Factor II Deficiency A coagulation disorder characterized by the partial or complete absence of prothrombin (factor II) activity in the blood. A coagulation disorder characterized by the partial or complete absence of prothrombin (factor II) activity in the blood. C27215 Coagulation Factor Deficiency C132009 C131633 Factor XIII Deficiency Factor XIII Deficiency A coagulation disorder characterized by the partial or complete absence of factor XIII activity in the blood. A coagulation disorder characterized by the partial or complete absence of factor XIII activity in the blood. C27215 Coagulation Factor Deficiency C132009 C131632 Factor X Deficiency Factor X Deficiency A coagulation disorder characterized by the partial or complete absence of factor X activity in the blood. A coagulation disorder characterized by the partial or complete absence of factor X activity in the blood. C27215 Coagulation Factor Deficiency C132009 C131631 Factor VII Deficiency Factor VII Deficiency A coagulation disorder characterized by the partial or complete absence of factor VII activity in the blood. A coagulation disorder characterized by the partial or complete absence of factor VII activity in the blood. C27215 Coagulation Factor Deficiency C132009 C131740 Factor XII Deficiency Factor XII Deficiency A coagulation disorder characterized by the partial or complete absence of factor XII activity in the blood. It is not associated with increased bleeding risk. A coagulation disorder characterized by the partial or complete absence of factor XII activity in the blood. It is not associated with increased bleeding risk. C27215 Coagulation Factor Deficiency C132009 C131739 Factor XI Deficiency Factor XI Deficiency A coagulation disorder characterized by the partial or complete absence of factor XI activity in the blood. A coagulation disorder characterized by the partial or complete absence of factor XI activity in the blood. C27215 Coagulation Factor Deficiency C132009 C131671 Gamma-Delta T-Cell Depletion Gamma-Delta T-Cell Depletion Restriction of the T-cell population in stem cell transplants to those expressing only the alpha-beta receptor. Restriction of the T-cell population in stem cell transplants to those expressing only the alpha-beta receptor. C15699 T-Cell Depletion C132009 C131642 Fechtner Syndrome Fechtner Syndrome An autosomal dominant disorder characterized by the triad of thrombocytopenia, giant platelets, and characteristic inclusions in peripheral blood leukocytes, with the additional features of nephritis, hearing loss, and eye abnormalities, mostly cataracts; it is associated with mutation of the MYH9 gene. An autosomal dominant disorder characterized by the triad of thrombocytopenia, giant platelets, and characteristic inclusions in peripheral blood leukocytes, with the additional features of nephritis, hearing loss, and eye abnormalities, mostly cataracts; it is associated with mutation of the MYH9 gene. C131634 Platelet Abnormality C28193 Syndrome C132009 C131654 Alpha-Beta T-Cell Depletion Alpha-Beta T-Cell Depletion Restriction of the T-cell population in stem cell transplants to those expressing only the gamma-delta receptor. Alpha-beta receptors are expressed on the majority of peripheral blood T-cells and are the primary mediators of graft versus host disease. Restriction of the T-cell population in stem cell transplants to those expressing only the gamma-delta receptor. Alpha-beta receptors are expressed on the majority of peripheral blood T-cells and are the primary mediators of graft versus host disease. C15699 T-Cell Depletion C132009 C131630 Anemia due to Erythrocyte Enzyme Disorder Anemia due to Erythrocyte Enzyme Disorder Any form of anemia that results from the absence of, or the defective action of, any enzyme involved in erythropoiesis. Any form of anemia that results from the absence of, or the defective action of, any enzyme involved in erythropoiesis. C35472 Anemia due to Enzyme Disorder C132009 C131656 Anemia due to Increased Destruction Anemia due to Increased Destruction Anemia that results from an increased rate of erythrocyte destruction. Anemia that results from an increased rate of erythrocyte destruction. C2869 Anemia C132009 C131655 Anemia due to Decreased Production Anemia due to Decreased Production Anemia that results from a decreased rate of erythropoiesis. Anemia that results from a decreased rate of erythropoiesis. C2869 Anemia C132009 C131625 Acquired Factor VII Deficiency Acquired Factor VII Deficiency An acquired coagulation disorder characterized by the partial or complete absence of factor VII activity in the blood. An acquired coagulation disorder characterized by the partial or complete absence of factor VII activity in the blood. C34347 Acquired Coagulation Factor Deficiency C131631 Factor VII Deficiency C132009 C131621 Acquired Factor I Deficiency Acquired Factor I Deficiency An acquired coagulation disorder characterized by the partial or complete absence of fibrinogen (factor I) activity in the blood. An acquired coagulation disorder characterized by the partial or complete absence of fibrinogen (factor I) activity in the blood. C34347 Acquired Coagulation Factor Deficiency C26692 Factor I Deficiency C132009 C131626 Acquired Factor X Deficiency Acquired Factor X Deficiency An acquired coagulation disorder characterized by the partial or complete absence of factor X activity in the blood. An acquired coagulation disorder characterized by the partial or complete absence of factor X activity in the blood. C34347 Acquired Coagulation Factor Deficiency C131632 Factor X Deficiency C132009 C131622 Acquired Factor II Deficiency Acquired Factor II Deficiency An acquired coagulation disorder characterized by the partial or complete absence of prothrombin (factor II) activity in the blood. An acquired coagulation disorder characterized by the partial or complete absence of prothrombin (factor II) activity in the blood. C34347 Acquired Coagulation Factor Deficiency C26799 Hereditary Factor II Deficiency C132009 C131627 Acquired Factor XI Deficiency Acquired Factor XI Deficiency An acquired coagulation disorder characterized by the partial or complete absence of factor XI activity in the blood. An acquired coagulation disorder characterized by the partial or complete absence of factor XI activity in the blood. C34347 Acquired Coagulation Factor Deficiency C84705 Hereditary Factor XI Deficiency Disease C132009 C131629 Acquired Factor XIII Deficiency Acquired Factor XIII Deficiency An acquired coagulation disorder characterized by the partial or complete absence of factor XIII activity in the blood. An acquired coagulation disorder characterized by the partial or complete absence of factor XIII activity in the blood. C34347 Acquired Coagulation Factor Deficiency C131633 Factor XIII Deficiency C132009 C131628 Acquired Factor XII Deficiency Acquired Factor XII Deficiency An acquired coagulation disorder characterized by the partial or complete absence of factor XII activity in the blood. An acquired coagulation disorder characterized by the partial or complete absence of factor XII activity in the blood. C34347 Acquired Coagulation Factor Deficiency C26770 Hereditary Factor XII Deficiency C132009 C131624 Acquired Factor V Deficiency Acquired Factor V Deficiency An acquired coagulation disorder characterized by the partial or complete absence of factor V activity in the blood. An acquired coagulation disorder characterized by the partial or complete absence of factor V activity in the blood. C34347 Acquired Coagulation Factor Deficiency C98938 Hereditary Factor V Deficiency C132009 C131651 Tissue Kallikrein Deficiency Tissue Kallikrein Deficiency A disorder characterized by the partial or complete absence of tissue-type kallikrein activity in the tissues and glandular secretions where it is normally present. A disorder characterized by the partial or complete absence of tissue-type kallikrein activity in the tissues and glandular secretions where it is normally present. C2902 Coagulation Disorder C132009 C131652 Triosephosphate Isomerase Deficiency Triosephosphate Isomerase Deficiency A rare, autosomal recessive, inherited disorder caused by mutation of the TPI1 gene. It is characterized by hemolytic anemia and severe, progressive neuromuscular dysfunction beginning in early childhood. A rare, autosomal recessive, inherited disorder caused by mutation of the TPI1 gene. It is characterized by hemolytic anemia and severe, progressive neuromuscular dysfunction beginning in early childhood. C131630 Anemia due to Erythrocyte Enzyme Disorder C132009 C131634 Platelet Abnormality Platelet Abnormality A disorder of platelet function or platelet production that may cause increased bleeding. A disorder of platelet function or platelet production that may cause increased bleeding. C26323 Hematologic Disorder C132009 C131648 Plasma Kallikrein Deficiency Plasma Kallikrein Deficiency A coagulation disorder characterized by the partial or complete absence of plasma-type kallikrein activity in the blood. A coagulation disorder characterized by the partial or complete absence of plasma-type kallikrein activity in the blood. C2902 Coagulation Disorder C132009 C131649 Pyrimidine-5'-Nucleotidase Deficiency Pyrimidine-5'-Nucleotidase Deficiency An autosomal recessive disorder caused by mutation of the NT5C3A gene. It is the most frequent abnormality of red cell nucleotide metabolism, causing chronic, non-spherocytic hemolytic anemia. Most affected individuals have Mediterranean, Jewish, or African ancestry. Basophilic stippling and accumulation of pyrimidines within erythrocytes are hallmarks of this disorder. An autosomal recessive disorder caused by mutation of the NT5C3A gene. It is the most frequent abnormality of red cell nucleotide metabolism, causing chronic, non-spherocytic hemolytic anemia. Most affected individuals have Mediterranean, Jewish, or African ancestry. Basophilic stippling and accumulation of pyrimidines within erythrocytes are hallmarks of this disorder. C35469 Anemia due to Disorder of Nucleotide Metabolism C131630 Anemia due to Erythrocyte Enzyme Disorder C132009 C131646 May-Hegglin Anomaly May-Hegglin Anomaly An autosomal dominant disorder characterized by the triad of thrombocytopenia, giant platelets, and characteristic inclusions in peripheral blood leukocytes. It is characterized by varying degrees of thrombocytopenia that may be associated with purpura and bleeding; it is associated with mutation of the MYH9 gene. An autosomal dominant disorder characterized by the triad of thrombocytopenia, giant platelets, and characteristic inclusions in peripheral blood leukocytes. It is characterized by varying degrees of thrombocytopenia that may be associated with purpura and bleeding; it is associated with mutation of the MYH9 gene. C131634 Platelet Abnormality C132009 C131675 Matched Related Donor Matched Related Donor A donor who is related to the transplant recipient, and who is a human leukocyte antigen (HLA) tissue type match. A donor who is related to the transplant recipient, and who is a human leukocyte antigen (HLA) tissue type match. C25190 Person C132009 C131659 Dysfibrinogenemia Dysfibrinogenemia A coagulation disorder caused by abnormalities in fibrin that result in defective clot formation. This disorder may be inherited or acquired. A coagulation disorder caused by abnormalities in fibrin that result in defective clot formation. This disorder may be inherited or acquired. C2902 Coagulation Disorder C132009 C131639 Epstein Syndrome Epstein Syndrome An autosomal dominant disorder characterized by thrombocytopenia, giant platelets, nephritis, and deafness; it is associated with mutation of the MYH9 gene. An autosomal dominant disorder characterized by thrombocytopenia, giant platelets, nephritis, and deafness; it is associated with mutation of the MYH9 gene. C131634 Platelet Abnormality C28193 Syndrome C132009 C131688 von Willebrand Disease, Type 2M von Willebrand Disease, Type 2M An autosomally inherited (generally dominant) coagulation disorder characterized by qualitative abnormalities of the von Willebrand factor (VWF). The mutant VWF shows decreased platelet adhesion without a deficiency of high molecular weight multimers; this functional defect is caused by mutations that disrupt VWF binding to platelets or to subendothelium. An autosomally inherited (generally dominant) coagulation disorder characterized by qualitative abnormalities of the von Willebrand factor (VWF). The mutant VWF shows decreased platelet adhesion without a deficiency of high molecular weight multimers; this functional defect is caused by mutations that disrupt VWF binding to platelets or to subendothelium. C68677 von Willebrand Disease C132009 C131686 von Willebrand Disease, Type 2A von Willebrand Disease, Type 2A An autosomally inherited (generally dominant) coagulation disorder characterized by qualitative abnormalities of the von Willebrand factor (VWF). The mutant VWF causes decreased platelet adhesion due to a selective deficiency of high molecular weight multimers. The decrease in large multimers can be due to a failure to synthesize the multimers ('group 1') or enhanced ADAMTS13-mediated proteolysis of the secreted high molecular weight protein ('group 2'). An autosomally inherited (generally dominant) coagulation disorder characterized by qualitative abnormalities of the von Willebrand factor (VWF). The mutant VWF causes decreased platelet adhesion due to a selective deficiency of high molecular weight multimers. The decrease in large multimers can be due to a failure to synthesize the multimers ('group 1') or enhanced ADAMTS13-mediated proteolysis of the secreted high molecular weight protein ('group 2'). C68677 von Willebrand Disease C132009 C131687 von Willebrand Disease, Type 2B von Willebrand Disease, Type 2B An autosomally inherited (generally dominant) coagulation disorder characterized by qualitative abnormalities of the von Willebrand factor (VWF). The mutant VWF shows increased affinity to platelet glycoprotein Ib alpha, resulting in increased platelet aggregation, and increased proteolysis of VWF subunits causing a decrease of large VWF multimers; patients often have secondary thrombocytopenia due to platelet consumption. An autosomally inherited (generally dominant) coagulation disorder characterized by qualitative abnormalities of the von Willebrand factor (VWF). The mutant VWF shows increased affinity to platelet glycoprotein Ib alpha, resulting in increased platelet aggregation, and increased proteolysis of VWF subunits causing a decrease of large VWF multimers; patients often have secondary thrombocytopenia due to platelet consumption. C68677 von Willebrand Disease C132009 C131685 von Willebrand Disease, Type 1 von Willebrand Disease, Type 1 An autosomally inherited (generally dominant) coagulation disorder characterized by quantitative partial deficiency of circulating von Willebrand factor (VWF) which account for 60 to 80% of cases of von Willebrand disease. It is characterized by mild to moderate quantitative deficiencies of VWF and factor VIII, which are coordinately reduced from normal plasma levels. An autosomally inherited (generally dominant) coagulation disorder characterized by quantitative partial deficiency of circulating von Willebrand factor (VWF) which account for 60 to 80% of cases of von Willebrand disease. It is characterized by mild to moderate quantitative deficiencies of VWF and factor VIII, which are coordinately reduced from normal plasma levels. C68677 von Willebrand Disease C132009