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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
X-linked panhypopituitarism Is a True Hereditary disorder of endocrine system Inferred relationship Existential restriction modifier
X-linked hypoparathyroidism Is a True Hereditary disorder of endocrine system Inferred relationship Existential restriction modifier
Kallman syndrome with heart disease Is a True Hereditary disorder of endocrine system Inferred relationship Existential restriction modifier
Hereditary growth hormone deficiency Is a True Hereditary disorder of endocrine system Inferred relationship Existential restriction modifier
Familial steroid-resistant nephrotic syndrome with adrenal insufficiency Is a True Hereditary disorder of endocrine system Inferred relationship Existential restriction modifier
Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus Is a True Hereditary disorder of endocrine system Inferred relationship Existential restriction modifier
Sanjad Sakati syndrome Is a True Hereditary disorder of endocrine system Inferred relationship Existential restriction modifier
Intrauterine growth restriction, short stature, early adult-onset diabetes syndrome Is a True Hereditary disorder of endocrine system Inferred relationship Existential restriction modifier
Autosomal semi-dominant severe lipodystrophic laminopathy Is a True Hereditary disorder of endocrine system Inferred relationship Existential restriction modifier
Cell death inducing DFFA like effector C-related familial partial lipodystrophy Is a True Hereditary disorder of endocrine system Inferred relationship Existential restriction modifier
Lipase E, hormone sensitive type-related familial partial lipodystrophy Is a True Hereditary disorder of endocrine system Inferred relationship Existential restriction modifier
Peroxisome proliferator activated receptor gamma-related familial partial lipodystrophy Is a True Hereditary disorder of endocrine system Inferred relationship Existential restriction modifier
AKT serine/threonine kinase 2-related familial partial lipodystrophy Is a True Hereditary disorder of endocrine system Inferred relationship Existential restriction modifier
4H leukodystrophy Is a True Hereditary disorder of endocrine system Inferred relationship Existential restriction modifier
Microcephalic primordial dwarfism, insulin resistance syndrome Is a True Hereditary disorder of endocrine system Inferred relationship Existential restriction modifier
Glucagon receptor-related hyperglucagonemia Is a True Hereditary disorder of endocrine system Inferred relationship Existential restriction modifier
Congenital isolated adrenocorticotropic hormone deficiency Is a True Hereditary disorder of endocrine system Inferred relationship Existential restriction modifier
Myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital anomalies, enteropathy syndrome Is a True Hereditary disorder of endocrine system Inferred relationship Existential restriction modifier
Alstrom syndrome Is a True Hereditary disorder of endocrine system Inferred relationship Existential restriction modifier
46,XX ovarian dysgenesis, short stature syndrome Is a True Hereditary disorder of endocrine system Inferred relationship Existential restriction modifier
Familial hyperaldosteronism type 1 Is a True Hereditary disorder of endocrine system Inferred relationship Existential restriction modifier
Juvenile-onset diabetes mellitus, central and peripheral neurodegeneration syndrome Is a True Hereditary disorder of endocrine system Inferred relationship Existential restriction modifier
Congenital leptin deficiency Is a True Hereditary disorder of endocrine system Inferred relationship Existential restriction modifier
Resistance to thyroid hormone due to mutation in thyroid hormone receptor beta Is a True Hereditary disorder of endocrine system Inferred relationship Existential restriction modifier
Polyendocrine polyneuropathy syndrome Is a True Hereditary disorder of endocrine system Inferred relationship Existential restriction modifier
Infantile multisystem neurologic, endocrine, pancreatic disease Is a True Hereditary disorder of endocrine system Inferred relationship Existential restriction modifier

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