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363104002: Hereditary disorder of endocrine system (disorder)

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

Descriptions:

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

277 descendants. Search Descendants:

Expanded Value Set

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

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This concept is not in any reference sets

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