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363104002: Hereditary disorder of endocrine system (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
1763650015 Hereditary disorder of endocrine system (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
1775969014 Hereditary disorder of endocrine system en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

287 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hereditary disorder of endocrine system (disorder) Is a Disorder of endocrine system true Inferred relationship Some
Hereditary disorder of endocrine system (disorder) Is a Hereditary disorder by system true Inferred relationship Some
Hereditary disorder of endocrine system (disorder) Finding site Structure of endocrine system (body structure) false Inferred relationship Some
Hereditary disorder of endocrine system (disorder) Is a Congenital disease (disorder) false Inferred relationship Some
Hereditary disorder of endocrine system (disorder) Occurrence Congenital false Inferred relationship Some 1
Hereditary disorder of endocrine system (disorder) Finding site Structure of endocrine system (body structure) true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome (disorder) Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Some
Retinohepatoendocrinologic syndrome (disorder) Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Some
Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome (disorder) Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Some
Growth delay due to insulin-like growth factor type 1 deficiency (disorder) Is a False Hereditary disorder of endocrine system (disorder) Inferred relationship Some
Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Some
Familial isolated hypoparathyroidism (disorder) Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Some
46,XY partial gonadal dysgenesis (disorder) Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Some
Nephropathy, deafness, hyperparathyroidism syndrome (disorder) Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Some
Moyamoya angiopathy, short stature, facial dysmorphism, hypergonadotropic hypogonadism syndrome (disorder) Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Some
Laminopathy type Decaudain Vigouroux Is a False Hereditary disorder of endocrine system (disorder) Inferred relationship Some
Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency (disorder) Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Some
X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder) Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Some
Hypoparathyroidism, deafness, renal disease syndrome (disorder) Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Some
Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder) Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Some
Familial male-limited precocious puberty (disorder) Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Some
Congenital central hypothyroidism due to thyrotropin-releasing hormone receptor deficiency (disorder) Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Some
Pyridoxal 5-phosphate dependent epilepsy (disorder) Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Some
X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency (disorder) Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Some
Spastic paraplegia with precocious puberty syndrome (disorder) Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Some
Thyrocerebrorenal syndrome Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Some
Stimmler syndrome Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Some
Carney complex (disorder) Is a False Hereditary disorder of endocrine system (disorder) Inferred relationship Some
Microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder) Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Some
Hypogonadotropic hypogonadism retinitis pigmentosa syndrome Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Some
Wolfram-like syndrome (disorder) Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Some
Pyridoxine-dependent epilepsy (disorder) Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Some
Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities Is a False Hereditary disorder of endocrine system (disorder) Inferred relationship Some
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Some
Isolated follicle stimulating hormone deficiency Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Some
Adrenomyodystrophy (disorder) Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Some
Familial hyperprolactinemia Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Some
Short stature with delayed bone age due to thyroid hormone metabolism deficiency (disorder) Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Some
Intellectual disability, myopathy, short stature, endocrine defect syndrome Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Some
Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Some
Familial glucocorticoid deficiency (disorder) Is a False Hereditary disorder of endocrine system (disorder) Inferred relationship Some
X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Some
Short stature due to growth hormone secretagogue receptor deficiency Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Some
Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder) Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Some
Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome (disorder) Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Some
X-linked acrogigantism Is a False Hereditary disorder of endocrine system (disorder) Inferred relationship Some
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Some
Leydig cell agenesis Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Some
Familial adrenal hypoplasia with absent pituitary luteinizing hormone (disorder) Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Some
Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Some
Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Some
Autosomal recessive hyperinsulinism due to Kir6.2 deficiency Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Some
Autosomal recessive hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder) Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Some
Obesity due to leptin receptor gene deficiency Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Some
Shwachman syndrome Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Some
Renal hepatic pancreatic dysplasia (disorder) Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Some
Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder) Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Some
Partial agenesis of pancreas (disorder) Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Some
Hypoplasia of pancreas, intestinal atresia, hypoplasia of gallbladder syndrome (disorder) Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Some
Leprechaunism syndrome Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Some
Partial androgen insensitivity syndrome (disorder) Is a False Hereditary disorder of endocrine system (disorder) Inferred relationship Some
Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Some
Thymic, renal, anal, lung dysplasia syndrome (disorder) Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Some
Pseudohypoparathyroidism type I A Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Some
Congenital pancreatic enterokinase deficiency Is a False Hereditary disorder of endocrine system (disorder) Inferred relationship Some
Pancreatic triacylglycerol lipase deficiency Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Some
Hereditary pancreatitis Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Some
Pancreatic colipase deficiency Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Some
Wolfram syndrome Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Some
Photomyoclonus, diabetes mellitus, deafness, nephropathy and cerebral dysfunction Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Some
Maternally inherited diabetes and deafness (disorder) Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Some
Insulin resistance - type A Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Some
Syndrome of apparent mineralocorticoid excess Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Some
Pseudohypoparathyroidism type 1C (disorder) Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Some
Cystic fibrosis of pancreas Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Some
Hereditary breast and ovarian cancer syndrome (disorder) Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Some
Hereditary benign acanthosis nigricans with insulin resistance Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Some
Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder) Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Some
Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Some
46,XY disorder of sex development, adrenal insufficiency due to cytochrome P450 family 11 subfamily A member 1 deficiency (disorder) Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Some
Perilipin 1 related familial partial lipodystrophy (disorder) Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Some
Hyperandrogenism due to cortisone reductase deficiency Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Some
Familial isolated hyperparathyroidism (disorder) Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Some
Familial nonmedullary primary thyroid carcinoma (disorder) Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Some
Diabetes mellitus co-occurrent and due to cystic fibrosis Is a False Hereditary disorder of endocrine system (disorder) Inferred relationship Some
Hereditary site-specific ovarian cancer syndrome Is a False Hereditary disorder of endocrine system (disorder) Inferred relationship Some
Non-acquired combined pituitary hormone deficiency, sensorineural hearing loss, spine abnormalities syndrome (disorder) Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Some
X-linked central congenital hypothyroidism with late-onset testicular enlargement (disorder) Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Some
Familial infantile gigantism (disorder) Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Some
Deficiency in anterior pituitary function, variable immunodeficiency syndrome (disorder) Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Some
Hypoinsulinemic hypoglycemia and body hemihypertrophy Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Some
Corticosteroid-binding globulin deficiency (disorder) Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Some
Primary hyperaldosteronism, seizures, neurological abnormalities syndrome (disorder) Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Some
Woodhouse Sakati syndrome Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Some
Dyshormonogenic goiter Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Some
Polyglandular autoimmune syndrome, type 1 Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Some
Progressive cerebellar ataxia with hypogonadism Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Some
Hyperproinsulinaemia Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Some
Ovarioleukodystrophy Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Some
Maturity onset diabetes of the young, type 2 (disorder) Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Some
Maturity onset diabetes of the young, type 1 (disorder) Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Some
Maturity-onset diabetes of the young, type 3 (disorder) Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Some
Maturity-onset diabetes of the young, type 5 (disorder) Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Some
Maturity-onset diabetes of the young, type 8 (disorder) Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Some
Maturity-onset diabetes of the young, type 10 (disorder) Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Some
Maturity-onset diabetes of the young, type 11 Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Some
X-linked panhypopituitarism (disorder) Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Some

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