363104002: Hereditary disorder of endocrine system (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)

\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)
\Disorder of body system\Disorder of endocrine system\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:

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
laminopati, Decaudain Vigouroux-typ	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, diabetes insipidus syndrome (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	True	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, alopeci, psykisk utvecklingsstörning och elektrokardiografiska avvikelser	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-bunden akrogigantism	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	True	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
medfödd brist på pankreatiskt enterokinas	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
Diabetes-deafness syndrome maternally transmitted	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 associated with cystic fibrosis	Is a	True	Hereditary disorder of endocrine system (disorder)	Inferred relationship	Some
ärftligt lokaliserat äggstockscancersyndrom	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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Id	Description	Lang	Type	Status	Case?	Module
482239011	Hereditary disorder of endocrine systen	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
754890018	Hereditary disorder of endocrine systen (disorder)	en	Fully specified name	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
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
1915661000052113	ärftlig sjukdom i endokrina systemet	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)