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 |
| 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 |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Familial glucocorticoid deficiency (disorder) | Is a | Hereditary disorder of endocrine system (disorder) | false | Inferred relationship | Some | ||
| Familial glucocorticoid deficiency (disorder) | Finding site | Adrenal cortex structure | true | Inferred relationship | Some | 1 | |
| Familial glucocorticoid deficiency (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 1 | |
| Familial glucocorticoid deficiency (disorder) | Is a | Adrenal cortical hypofunction (disorder) | false | Inferred relationship | Some | ||
| Familial glucocorticoid deficiency (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Familial glucocorticoid deficiency (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Familial glucocorticoid deficiency (disorder) | Is a | Adrenocorticotropic hormone resistance syndrome | true | Inferred relationship | Some | ||
| Familial glucocorticoid deficiency (disorder) | Finding site | Thyroid structure | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR