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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
X-linked panhypopituitarism (disorder)	Is a	True	Hereditary disorder of endocrine system (disorder)	Inferred relationship	Some
X-linked hypoparathyroidism (disorder)	Is a	True	Hereditary disorder of endocrine system (disorder)	Inferred relationship	Some
Kallman syndrome with heart disease (disorder)	Is a	True	Hereditary disorder of endocrine system (disorder)	Inferred relationship	Some
Hereditary growth hormone deficiency (disorder)	Is a	True	Hereditary disorder of endocrine system (disorder)	Inferred relationship	Some
Familial steroid-resistant nephrotic syndrome with adrenal insufficiency	Is a	True	Hereditary disorder of endocrine system (disorder)	Inferred relationship	Some
Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus	Is a	True	Hereditary disorder of endocrine system (disorder)	Inferred relationship	Some
Sanjad Sakati syndrome (disorder)	Is a	True	Hereditary disorder of endocrine system (disorder)	Inferred relationship	Some
Intrauterine growth restriction, short stature, early adult-onset diabetes syndrome	Is a	True	Hereditary disorder of endocrine system (disorder)	Inferred relationship	Some
Autosomal semi-dominant severe lipodystrophic laminopathy (disorder)	Is a	True	Hereditary disorder of endocrine system (disorder)	Inferred relationship	Some
CIDEC-related familial partial lipodystrophy	Is a	True	Hereditary disorder of endocrine system (disorder)	Inferred relationship	Some
LIPE-related familial partial lipodystrophy	Is a	True	Hereditary disorder of endocrine system (disorder)	Inferred relationship	Some
Peroxisome proliferator activated receptor gamma-related familial partial lipodystrophy (disorder)	Is a	True	Hereditary disorder of endocrine system (disorder)	Inferred relationship	Some
AKT2-related familial partial lipodystrophy	Is a	True	Hereditary disorder of endocrine system (disorder)	Inferred relationship	Some
4H leukodystrophy (disorder)	Is a	True	Hereditary disorder of endocrine system (disorder)	Inferred relationship	Some
Microcephalic primordial dwarfism, insulin resistance syndrome (disorder)	Is a	True	Hereditary disorder of endocrine system (disorder)	Inferred relationship	Some
Glucagon receptor-related hyperglucagonemia (disorder)	Is a	True	Hereditary disorder of endocrine system (disorder)	Inferred relationship	Some
Congenital isolated adrenocorticotropic hormone deficiency (disorder)	Is a	True	Hereditary disorder of endocrine system (disorder)	Inferred relationship	Some
Myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital anomalies, enteropathy syndrome (disorder)	Is a	True	Hereditary disorder of endocrine system (disorder)	Inferred relationship	Some
Alstrom syndrome	Is a	True	Hereditary disorder of endocrine system (disorder)	Inferred relationship	Some
46,XX ovarian dysgenesis, short stature syndrome (disorder)	Is a	True	Hereditary disorder of endocrine system (disorder)	Inferred relationship	Some
Familial hyperaldosteronism type 1	Is a	True	Hereditary disorder of endocrine system (disorder)	Inferred relationship	Some
Juvenile-onset diabetes mellitus, central and peripheral neurodegeneration syndrome (disorder)	Is a	True	Hereditary disorder of endocrine system (disorder)	Inferred relationship	Some
Congenital leptin deficiency	Is a	True	Hereditary disorder of endocrine system (disorder)	Inferred relationship	Some
Resistance to thyroid hormone due to mutation in thyroid hormone receptor beta	Is a	True	Hereditary disorder of endocrine system (disorder)	Inferred relationship	Some
Polyendocrine polyneuropathy syndrome (disorder)	Is a	True	Hereditary disorder of endocrine system (disorder)	Inferred relationship	Some
Infantile multisystem neurologic, endocrine, pancreatic disease (disorder)	Is a	True	Hereditary disorder of endocrine system (disorder)	Inferred relationship	Some
Familial multinodular goiter syndrome (disorder)	Is a	True	Hereditary disorder of endocrine system (disorder)	Inferred relationship	Some
Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome (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)