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765326001: Familial glucocorticoid deficiency (disorder)

Status: current, Primitive. Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3657918013 Familial glucocorticoid deficiency (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3657919017 Familial glucocorticoid deficiency en Synonym Active Case insensitive SNOMED CT core
3657920011 Disease that is characterised clinically by neonatal hyperpigmentation, hypoglycaemia, failure to thrive, and recurrent infections and biochemically by glucocorticoid deficiency without mineralocorticoid deficiency. The disease usually presents in infancy or early childhood. Hypoglycaemic crises resulting in convulsions can lead to coma or death if untreated and recurrent hypoglycaemia may lead to neurological sequelae. Most cases are caused by defects in the adrenocorticotropin receptor, or its signalling pathway resulting in a failure of the cells of zona fasciculata in the adrenal cortex to respond appropriately to adrenocorticotrophic hormone, leading to a glucocorticoid deficiency. These defects are most commonly caused by mutations in MC2R (18p11.2) and MRAP (21q22.1). Other mutations reported include MCM4 (8q12-q13), NNT (5p12) and TXNRD2 (22q11.21). Inherited in an autosomal recessive manner. en Definition Active Case sensitive SNOMED CT core
3657921010 Disease that is characterized clinically by neonatal hyperpigmentation, hypoglycemia, failure to thrive, and recurrent infections and biochemically by glucocorticoid deficiency without mineralocorticoid deficiency. The disease usually presents in infancy or early childhood. Hypoglycemic crises resulting in convulsions can lead to coma or death if untreated and recurrent hypoglycemia may lead to neurological sequelae. Most cases are caused by defects in the adrenocorticotropin receptor, or its signaling pathway resulting in a failure of the cells of zona fasciculata in the adrenal cortex to respond appropriately to adrenocorticotrophic hormone, leading to a glucocorticoid deficiency. These defects are most commonly caused by mutations in MC2R (18p11.2) and MRAP (21q22.1). Other mutations reported include MCM4 (8q12-q13), NNT (5p12) and TXNRD2 (22q11.21). Inherited in an autosomal recessive manner. en Definition Active Case sensitive SNOMED CT core

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Familial glucocorticoid deficiency Occurrence Congenital true Inferred relationship Some 2
Familial glucocorticoid deficiency Is a Adrenocorticotropic hormone resistance syndrome true Inferred relationship Some
Familial glucocorticoid deficiency Finding site Thyroid structure true Inferred relationship Some 2
Familial glucocorticoid deficiency Is a Hereditary disorder of endocrine system false Inferred relationship Some
Familial glucocorticoid deficiency Finding site Adrenal cortex structure true Inferred relationship Some 1
Familial glucocorticoid deficiency Occurrence Congenital false Inferred relationship Some 1
Familial glucocorticoid deficiency Is a Adrenal insufficiency false Inferred relationship Some
Familial glucocorticoid deficiency Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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