Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3482362015 | Familial isolated hypoparathyroidism (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3482363013 | Familial isolated hypoparathyroidism | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 6474581000146110 | familiaire geïsoleerde hypoparathyreoïdie | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6474591000146112 | familiaire geïsoleerde hypoparathyreoïdie (aandoening) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6474601000146119 | familiale geïsoleerde hypoparathyroïdie | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6474611000146117 | familiaire geïsoleerde hypoparathyrose | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 3482364019 | A rare heterogeneous group of metabolic disorders with abnormal calcium metabolism due to deficient secretion of parathormone (PTH) without other endocrine disorders or developmental defects. It can occur at any age (from the newborn period to adulthood) but generally starts within the first decade of life. The disease may be due to an activating mutation of the calcium-sensing receptor (CASR) gene. This is the most common genetic cause and is transmitted as an autosomal dominant trait. It represents 42% of isolated hypoparathyroidism cases. Thirteen mutations have been described in familial or sporadic cases. In three families, mutations in the PTH gene have been identified. One family has been reported with a mutation in the gene encoding the glial cells missing homolog b (GCMB) transcription factor. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Familial isolated hypoparathyroidism (disorder) | Is a | Hypoparathyroidism | true | Inferred relationship | Some | ||
| Familial isolated hypoparathyroidism (disorder) | Is a | Hereditary disorder of endocrine system (disorder) | true | Inferred relationship | Some | ||
| Familial isolated hypoparathyroidism (disorder) | Has definitional manifestation | Decreased hormone secretion | false | Inferred relationship | Some | ||
| Familial isolated hypoparathyroidism (disorder) | Is a | Decreased hormone secretion | false | Inferred relationship | Some | ||
| Familial isolated hypoparathyroidism (disorder) | Interprets | Evaluation procedure (procedure) | false | Inferred relationship | Some | 3 | |
| Familial isolated hypoparathyroidism (disorder) | Has interpretation | Decreased | true | Inferred relationship | Some | 4 | |
| Familial isolated hypoparathyroidism (disorder) | Interprets | Hormone secretion | true | Inferred relationship | Some | 4 | |
| Familial isolated hypoparathyroidism (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 5 | |
| Familial isolated hypoparathyroidism (disorder) | Finding site | Parathyroid structure | false | Inferred relationship | Some | 5 | |
| Familial isolated hypoparathyroidism (disorder) | Interprets | Endocrine observable | false | Inferred relationship | Some | 3 | |
| Familial isolated hypoparathyroidism (disorder) | Finding site | Parathyroid structure | true | Inferred relationship | Some | 2 |
This concept is not in any reference sets
FHIR