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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
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 False 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
Androgen resistance syndrome Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Some
Xp21 deletion syndrome (disorder) Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Some
Autosomal dominant hereditary arginine vasopressin deficiency (disorder) Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Some
Autosomal recessive hereditary arginine vasopressin deficiency (disorder) Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Some
Familial hyperaldosteronism Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Some
Diabetes mellitus due to cystic fibrosis (disorder) Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Some

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