C C99068 Pulmonary Surfactant Metabolism Dysfunction-1 Surfactant Protein B Deficiency Surfactant Apoprotein B Deficiency An autosomal recessive condition caused by mutation(s) in the SFTPB gene, encoding pulmonary surfactant-associated protein B. It is characterized by severe respiratory distress-like illness and responds poorly to exogenous administration of surfactant. C99067 Surfactant Protein Deficiency C90259 NICHD Terminology C C114938 Late Preterm Infant Late Preterm Infant Near Term Infant An age group comprised of infants greater than or equal to 34 weeks, 0 days and less than 37 weeks, 0 days gestational age. A newborn infant greater than or equal to 34 weeks, 0 days and less than 37 weeks, 0 days gestational age. C16731 Newborn C90259 NICHD Terminology C C114939 Extremely Preterm Infant Extremely Preterm Infant Extreme Immaturity An age group comprised of infants less than 28 weeks, 0 days gestational age. A newborn infant less than 28 weeks, 0 days gestational age. C16731 Newborn C90259 NICHD Terminology C C114947 Postterm Infant Postterm Infant Post Dates | Postmature An age group comprised of infants greater than or equal to 42 weeks, 0 days gestational age. A newborn infant greater than or equal to 42 weeks, 0 days gestational age. C16731 Newborn C90259 NICHD Terminology C C115292 Non-Metastatic Childhood Soft Tissue Sarcoma Non-Metastatic Childhood Soft Tissue Sarcoma Soft tissue sarcoma that occurs during childhood and is confined to the site in which it initially manifested. A soft tissue sarcoma that occurs during childhood, and has not spread beyond its original site of growth. C7715 Childhood Soft Tissue Sarcoma C90259 NICHD Terminology C C118677 Very Preterm Infant Very Preterm Infant An age group comprised of infants greater than 28 weeks, 0 days and less than 34 weeks, 0 days. A newborn infant greater than 28 weeks, 0 days and less than 34 weeks, 0 days. C16731 Newborn C90259 NICHD Terminology C C128110 Nephrotic Syndrome - Infrequently Relapsing Nephrotic Syndrome - Infrequently Relapsing Nephrotic syndrome in which there is a relapse occurring less than twice in the first six months, or less than four times in a year. Nephrotic syndrome in which there is a relapse occurring less than twice in the first six months, or less than four times in a year. C34845 Nephrotic Syndrome C90259 NICHD Terminology C C16423 Child Child An age group comprised of individuals who are not yet an adult. The specific cut-off age will vary by purpose. C25190 Person C90259 NICHD Terminology C C16731 Newborn Newborn An age group comprised of infants during the first month after birth. C16423 Child C90259 NICHD Terminology C C27956 Infant Infant An age group comprised of individuals between one month and two years of age. C16423 Child C90259 NICHD Terminology C C3403 Teratoma Teratoma A non-seminomatous germ cell tumor characterized by the presence of various tissues which correspond to the different germinal layers (endoderm, mesoderm, and ectoderm). It occurs in the testis, ovary, and extragonadal sites including central nervous system, mediastinum, lung, and stomach. According to the level of differentiation of the tissues which comprise the tumor, teratomas are classified as benign (grade 0 or 1), immature (grade 2), and malignant (grade 3). Grade 0 teratomas contain only mature elements; grade 1 teratomas have a limited degree of immaturity; grade 2 teratomas have a more extensive degree of immaturity; grade 3 teratomas are composed exclusively of immature tissues. The prognosis depends on patient age, tumor size and grade, and stage. A non-germinomatous germ cell tumor characterized by the presence of various tissues which correspond to the different germinal layers (endoderm, mesoderm, and ectoderm). It occurs in the testis, ovary, and extragonadal sites including central nervous system, mediastinum, lung, and stomach. According to the level of differentiation of the tissues which comprise the tumor, teratomas are classified as mature or immature. Mature teratomas are composed of well differentiated, adult-type tissues. Immature teratomas are composed of immature, fetal-type tissues. C3708 Germ Cell Tumor C90259 NICHD Terminology C C34850 Night Blindness Night Blindness Nyctalopia Inability to see clearly in dim light. Poor visual function in dim light. C97109 Blindness C90259 NICHD Terminology C C49642 Preterm Infant Preterm Infant An age group comprised of infants less than 37 weeks, 0 days gestational age. A newborn infant less than 37 weeks, 0 days gestational age. C16731 Newborn C90259 NICHD Terminology C C5028 Verrucous Lesion Wart Verruca | Verrucous Lesion A papillomavirus related epithelial overgrowth. It can be located anywhere on the body though when it involves the perineal region it is generally referred to as condyloma acuminatum. A growth on the skin with a thickened, rough surface. C3262 Neoplasm C3371 Skin Disorder C90259 NICHD Terminology C C6432 Multiple Endocrine Neoplasia Multiple Endocrine Neoplasia Syndrome(s) MEN Syndromes An autosomal dominant inherited neoplastic syndrome characterized by the development of various endocrine neoplasms and abnormalities in various anatomic sites. There are four types recognized: type 1 (MEN 1), caused by inactivation of the tumor suppressor gene MEN-1, type 2A (MEN 2A), caused by mutation of the RET gene, type 2B (MEN 2B) also caused by mutation of the RET gene, and type 4 (MEN 4) caused by mutation of the CDKN1B gene. Patients with MEN 1 may develop hyperparathyroidism and parathyroid gland adenomas, pituitary gland adenomas, pancreatic islet cell neoplasms, and carcinoid tumors. Patients with MEN 2A develop medullary thyroid carcinomas and may also develop pheochromocytomas and parathyroid gland hyperplasia. Patients with MEN 2B develop medullary thyroid carcinomas and numerous neural defects including neuromas. Patients with MEN 4 develop endocrine neoplasms, particularly in the parathyroid glands, pituitary, and pancreas. A genetically heterogenous group of autosomal dominant neoplastic syndromes characterized by the development of neoplasms in various endocrine organs. C3010 Endocrine Neoplasm C90259 NICHD Terminology C C6554 Childhood Ovarian Teratoma Childhood Ovarian Teratoma A 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 C90259 NICHD Terminology C C84646 Congenital Dyserythropoietic Anemia Congenital Dyserythropoietic Anemia 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. 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 C90259 NICHD Terminology C C89333 Term Infant Term Infant Full Term Neonate An age group comprised of infants greater than or equal to 37 weeks, 0 days and less than or equal to 41 weeks, 6 days gestational age. A newborn infant greater than or equal to 37 weeks, 0 days and less than or equal to 41 weeks, 6 days gestational age. C16731 Newborn C90259 NICHD Terminology C C89342 Toddler Toddler An age group comprised of individuals between 12 and 18 months of age. C16423 Child C90259 NICHD Terminology C C9042 Childhood Brain Stem Glioma Childhood Brain Stem Glioma A glioma that arises from the brain stem and occurs during childhood. 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 C90259 NICHD Terminology C C114781 Dialysis Disequilibrium Syndrome Dialysis Disequilibrium Syndrome Disequilibrium Syndrome A complication occurring during hemodialysis that is thought to be due to a rapid decrease in blood urea nitrogen, and is characterized by an increase in intracranial pressure resulting in nausea, headache, vomiting, restlessness, and/or a decreased level of consciousness. A complication occurring during hemodialysis that is thought to be due to a rapid decrease in blood urea nitrogen, and is characterized by an increase in intracranial pressure resulting in nausea, headache, vomiting, restlessness, and/or a decreased level of consciousness. C2959 Complication C90259 NICHD Terminology C C29719 Tobacco Smoking History Smoking History A record of an individual's background in regard to smoking tobacco. This would include such factors as start date, end date (if applicable), number of cigarette smoked, attempts to quit, and others. C18772 Personal Medical History C90259 NICHD Terminology C C3878 Thyroid Gland Anaplastic Carcinoma Anaplastic Thyroid Carcinoma Undifferentiated Thyroid Tumor A primary carcinoma of the thyroid gland composed of undifferentiated cells. The malignant cells demonstrate evidence of epithelial differentiation, either by immunohistochemistry or electron microscopic studies. Microscopically, in the majority of cases there is a mixture of spindle, epithelioid, and giant cells. The vast majority of the patients present with a rapidly enlarging neck mass. The clinical course is usually aggressive. An aggressive carcinoma of the thyroid gland composed of undifferentiated cells. C3414 Thyroid Tumor C90259 NICHD Terminology C C6897 Cystic Partially Differentiated Kidney 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 C90259 NICHD Terminology