C	C107377	Musculoskeletal Disorder	Musculoskeletal System Disorder	Disorder of Musculoskeletal System	A non-neoplastic or neoplastic disorder that affects muscles and bones.		C2991	Disease or Disorder			C90259	NICHD Terminology
C	C123207	Bladder Exstrophy	Bladder Exstrophy	Ectopia Vesicae	A congenital anomaly that involves the protrusion of the exstrophied bladder through the abdominal wall. It is an anomaly that exists along the exstrophy-epispadias complex, which frequently includes urethra exstrophy, separation of the pubic symphysis, external rotation of the pelvic bones, and opening of the puborectal sling and sphincters.	A congenital anomaly that involves the protrusion of the exstrophied bladder through the abdominal wall. It is an anomaly that exists along the exstrophy-epispadias complex, which frequently includes urethra exstrophy, separation of the pubic symphysis, external rotation of the pelvic bones, and opening of the puborectal sling and sphincters.	C2900	Bladder Disorder			C90259	NICHD Terminology
C	C61259	Mucopolysaccharidosis	Mucopolysaccharidosis		A group of autosomal recessive or X-linked inherited lysosomal storage disorders affecting the metabolism of mucopolysaccharides, resulting in the accumulation of mucopolysaccharides in the body. Signs and symptoms include organomegaly, intellectual disabilities, abnormal skeletal development, heart disorders, hearing loss, and central nervous system deficiencies.		C61250	Lysosomal Storage Disorder			C90259	NICHD Terminology
C	C9305	Malignant Neoplasm	Cancer	Malignancy || Malignant Growth || Malignant Neoplasm || Malignant Neoplastic Disease	A tumor composed of atypical neoplastic, often pleomorphic cells that invade other tissues. Malignant neoplasms often metastasize to distant anatomic sites and may recur after excision. The most common malignant neoplasms are carcinomas, Hodgkin and non-Hodgkin lymphomas, leukemias, melanomas, and sarcomas.	Uncontrolled growth of abnormal cells with potential for metastatic spread.	C3262	Neoplasm			C90259	NICHD Terminology
C	C2989	22q11.2 Deletion Syndrome	22q Deletion Syndrome(s)	DGS1 || DiGeorge Sequence || DiGeorge Syndrome || DiGeorge Syndrome Type 1 || Shprintzen Syndrome	A congenital anomaly characterized by immunodeficiency, abnormal facies, congenital heart disease, hypocalcemia, and increased susceptibility to infections. Pathologic characteristics include conotruncal abnormalities and absence or hypoplasia of thymus and parathyroid glands. DiGeorge syndrome is associated with abnormalities of chromosome 22. Also known as DiGeorge anomaly.	A group of phenotypically variable, mostly sporadic conditions caused by 1.5- to 3.0-Mb hemizygous deletions of chromosome 22q11.2. Haploinsufficiency of the TBX1 gene encoding the transcription factor T-box 1 is believed responsible for most of the physical findings. Clinical features may include cardiac anomalies, including truncus arteriosus and tetralogy of Fallot, as well as other anomalies, including micrognathia, thymic aplasia (with resultant immunodeficiency), cleft palate, and hypoparathyroidism.	C3101	Genetic Disorder			C90259	NICHD Terminology