Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 1002941000172114 | hétéroplasie osseuse progressive | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 3313302016 | Progressive osseous heteroplasia (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3313303014 | Progressive osseous heteroplasia | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3315787012 | Familial ectopic ossification | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 753931000241110 | hétéroplasie osseuse progressive (trouble) | fr | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 926941000172113 | HOP - hétéroplasie osseuse progressive | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 3315788019 | Progressive osseous heteroplasia (POH) is a rare genetic bone disorder with clinical characteristics of progressive extraskeletal bone formation presenting in early life with cutaneous ossification that progressively involves subcutaneous and then subsequently deep connective tissues, including muscle and fascia. POH overlaps with a number of related genetic disorders including Albright hereditary osteodystrophy, pseudohypoparathyroidism and primary osteoma cutis, that share the common features of superficial heterotopic ossification in association with inactivating mutations of GNAS gene (20q13.2-q13.3), coding for guanine nucleotide-binding proteins. POH can, however, be distinguished clinically by the deep and progressive nature of the heterotopic bone formation. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| hétéroplasie osseuse progressive | est un(e) (attribut) | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| hétéroplasie osseuse progressive | est un(e) (attribut) | Ectopic bone tissue, congenital | true | Inferred relationship | Some | ||
| hétéroplasie osseuse progressive | est un(e) (attribut) | Muscular ossification | true | Inferred relationship | Some | ||
| hétéroplasie osseuse progressive | morphologie associée (attribut) | Osseous metaplasia (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| hétéroplasie osseuse progressive | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| hétéroplasie osseuse progressive | localisation d'une constatation (attribut) | Muscle structure | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR