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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
482239011 Hereditary disorder of endocrine systen en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
754890018 Hereditary disorder of endocrine systen (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
1763650015 Hereditary disorder of endocrine system (disorder) en Fully specified name Active 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 Only initial character 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
6264271000241118 endocrinopathie héréditaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6264281000241116 affection endocrinienne héréditaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6264291000241119 affection héréditaire du système endocrinien fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6264271000241118 endocrinopathie héréditaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6264281000241116 affection endocrinienne héréditaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6264291000241119 affection héréditaire du système endocrinien fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

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 (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary disorder of endocrine system (disorder) Is a Hereditary disorder by system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary disorder of endocrine system (disorder) Finding site Structure of endocrine system (body structure) false Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary disorder of endocrine system (disorder) Is a Congenital disease false Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary disorder of endocrine system (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 1
Hereditary disorder of endocrine system (disorder) Finding site Structure of endocrine system (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group
X-linked panhypopituitarism Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hypoparathyroidism - X-linked Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Kallman syndrome with heart disease Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary growth hormone deficiency (disorder) Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Familial steroid-resistant nephrotic syndrome with adrenal insufficiency (disorder) Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Sanjad Sakati syndrome Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Intrauterine growth restriction, short stature, early adult-onset diabetes syndrome Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal semi-dominant severe lipodystrophic laminopathy (disorder) Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare, genetic lipodystrophy characterised by abnormal subcutaneous fat distribution, resulting in preservation of visceral, neck and axillary fat and absence of lower limb and femoro gluteal subcutaneous fat. Additional clinical features are acanthosis nigricans, insulin-resistant type II diabetes mellitus, dyslipidemia, and hypertension, leading to pancreatitis, hepatomegaly and hepatic steatosis. Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
LIPE-related familial partial lipodystrophy Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Peroxisome proliferator activated receptor gamma-related familial partial lipodystrophy (disorder) Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare familial partial lipodystrophy characterized by adult onset of distal lipoatrophy and severe insulin resistance in the liver and peripheral tissues, hyperinsulinemia, and diabetes mellitus. Acanthosis nigricans and hypertension have been reported in association. Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
4H leucodystrophy Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Microcephalic primordial dwarfism, insulin resistance syndrome (disorder) Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Glucagon receptor-related hyperglucagonemia (disorder) Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital isolated adrenocorticotropic hormone deficiency (disorder) Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
MIRAGE syndrome Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Alstrom syndrome Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
46,XX ovarian dysgenesis, short stature syndrome (disorder) Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Familial hyperaldosteronism type 1 Is a False Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Juvenile-onset diabetes mellitus, central and peripheral neurodegeneration syndrome Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital leptin deficiency Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Resistance to thyroid hormone due to mutation in thyroid hormone receptor beta Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic disease characterized by childhood onset of multiple endocrine manifestations in combination with central and peripheral nervous system abnormalities. Reported signs and symptoms include postnatal growth retardation, moderate intellectual disability, hypogonadotropic hypogonadism, insulin-dependent diabetes mellitus, central hypothyroidism, demyelinating sensorimotor polyneuropathy, and cerebellar and pyramidal signs. Progressive hearing loss and a hypoplastic pituitary gland have also been described. Brain imaging shows moderate white matter abnormalities. Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Infantile multisystem neurologic, endocrine, pancreatic disease (disorder) Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Familial multinodular goiter syndrome (disorder) Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome (disorder) Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A disorder of sex development (DSD) characterised by the presence of female external genitalia, ambiguous genitalia or variable defects in virilisation in a 46,XY individual with absent or partial responsiveness to age-appropriate levels of androgens. It comprises two clinical subgroups: complete AIS (CAIS) and partial AIS (PAIS). Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare chromosomal anomaly with characteristics of complex glycerol kinase deficiency, congenital adrenal hypoplasia, intellectual disability and/or Duchenne muscular dystrophy that usually affect males. The clinical features depend on the deletion size and the number and type of involved genes. Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant hereditary arginine vasopressin deficiency (disorder) Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive hereditary arginine vasopressin deficiency (disorder) Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Familial hyperaldosteronism Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Diabetes mellitus due to cystic fibrosis (disorder) Is a True Hereditary disorder of endocrine system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)

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