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765326001: Familial glucocorticoid deficiency (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 Entire term case insensitive (core metadata concept) SNOMED CT core
3657919017 Familial glucocorticoid deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5404525015 Familial glucocorticoid deficiency (FGD) is a group of primary adrenal insufficiencies characterized clinically by neonatal hyperpigmentation, hypoglycemia, failure to thrive, and recurrent infections, and biochemically by glucocorticoid deficiency without mineralocorticoid deficiency. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404526019 Familial glucocorticoid deficiency (FGD) is a group of primary adrenal insufficiencies characterised clinically by neonatal hyperpigmentation, hypoglycaemia, failure to thrive, and recurrent infections, and biochemically by glucocorticoid deficiency without mineralocorticoid deficiency. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3657918013 Familial glucocorticoid deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3657919017 Familial glucocorticoid deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core
5404525015 Familial glucocorticoid deficiency (FGD) is a group of primary adrenal insufficiencies characterized clinically by neonatal hyperpigmentation, hypoglycemia, failure to thrive, and recurrent infections, and biochemically by glucocorticoid deficiency without mineralocorticoid deficiency. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404526019 Familial glucocorticoid deficiency (FGD) is a group of primary adrenal insufficiencies characterised clinically by neonatal hyperpigmentation, hypoglycaemia, failure to thrive, and recurrent infections, and biochemically by glucocorticoid deficiency without mineralocorticoid deficiency. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3389411001000116 Glukokortikoid-Mangel, familiärer de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
961561000172115 déficit isolé familial en glucocorticoïdes fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
961561000172115 déficit isolé familial en glucocorticoïdes fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3389411001000116 Glukokortikoid-Mangel, familiärer de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Familial glucocorticoid deficiency (disorder) Is a Hereditary disorder of endocrine system (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Familial glucocorticoid deficiency (disorder) Finding site Adrenal cortex structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Familial glucocorticoid deficiency (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 1
Familial glucocorticoid deficiency (disorder) Is a Adrenal cortical hypofunction (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Familial glucocorticoid deficiency (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Familial glucocorticoid deficiency (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Familial glucocorticoid deficiency (disorder) Is a Adrenocorticotropic hormone resistance syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
Familial glucocorticoid deficiency (disorder) Finding site Thyroid structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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