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 |
| 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 |
| 5402043013 | Progressive osseous heteroplasia (POH) is a rare genetic bone disorder characterized clinically by 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 |
| 5402044019 | Progressive osseous heteroplasia (POH) is a rare genetic bone disorder characterised clinically by 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 |
| Progressive osseous heteroplasia (disorder) | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Progressive osseous heteroplasia (disorder) | Is a | Ectopic bone tissue, congenital | true | Inferred relationship | Some | ||
| Progressive osseous heteroplasia (disorder) | Is a | Muscular ossification | true | Inferred relationship | Some | ||
| Progressive osseous heteroplasia (disorder) | Associated morphology | Osseous metaplasia | true | Inferred relationship | Some | 1 | |
| Progressive osseous heteroplasia (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Progressive osseous heteroplasia (disorder) | Finding site | Skeletal and/or smooth muscle structure (body structure) | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR