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 |
| 760691000241118 | hypoparathyroïdie isolée familiale (trouble) | fr | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 932681000172111 | hypoparathyroïdie isolée familiale | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation 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 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| Autosomal dominant familial isolated hypoparathyroidism (disorder) | est un(e) (attribut) | True | Familial isolated hypoparathyroidism (disorder) | Inferred relationship | Some | |
| Autosomal recessive familial isolated hypoparathyroidism (disorder) | est un(e) (attribut) | True | Familial isolated hypoparathyroidism (disorder) | Inferred relationship | Some | |
| Hereditary isolated hypoparathyroidism due to agenesis of parathyroid gland (disorder) | est un(e) (attribut) | False | Familial isolated hypoparathyroidism (disorder) | Inferred relationship | Some | |
| Hereditary isolated hypoparathyroidism due to impaired parathormone secretion (disorder) | est un(e) (attribut) | False | Familial isolated hypoparathyroidism (disorder) | Inferred relationship | Some |
This concept is not in any reference sets
FHIR