Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3311172019 | Familial congenital hypopituitarism | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3311175017 | Combined pituitary hormone deficiency genetic form (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3311409015 | Combined pituitary hormone deficiency genetic form | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3311410013 | Multiple pituitary hormone deficiency genetic form | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 6458241000146112 | genetische vorm van gecombineerde hypofysehormoondeficiëntie | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6458251000146110 | genetische vorm van gecombineerde hypofysehormoondeficiëntie (aandoening) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 3311171014 | Congenital multiple pituitary hormone deficiency including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis. Rare when compared with the high incidence of hypopituitarism induced by pituitary adenomas, transsphenoidal surgery or radiotherapy. Clinical presentation is variable, depending on the type and severity of deficiencies and on the age at diagnosis. If untreated, main symptoms include short stature, cognitive alterations or delayed puberty. Due to mutations of several genes encoding pituitary transcription factors. A diagnosis must be suspected when evident causes of hypopituitarism have been ruled out. Type of transmission varies with the factor and the mutation involved. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Combined pituitary hormone deficiency genetic form (disorder) | Is a | Congenital disease (disorder) | false | Inferred relationship | Some | ||
| Combined pituitary hormone deficiency genetic form (disorder) | Is a | Hypopituitarism | true | Inferred relationship | Some | ||
| Combined pituitary hormone deficiency genetic form (disorder) | Is a | Hereditary disorder of endocrine system (disorder) | true | Inferred relationship | Some | ||
| Combined pituitary hormone deficiency genetic form (disorder) | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
| Combined pituitary hormone deficiency genetic form (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | ||
| Combined pituitary hormone deficiency genetic form (disorder) | Finding site | Pituitary structure | false | Inferred relationship | Some | ||
| Combined pituitary hormone deficiency genetic form (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Combined pituitary hormone deficiency genetic form (disorder) | Finding site | Pituitary structure | true | Inferred relationship | Some | 1 | |
| Combined pituitary hormone deficiency genetic form (disorder) | Is a | Congenital neurological disorder (disorder) | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR