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 |
| 3322199019 | Czech dysplasia metatarsal type (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3322200016 | Czech dysplasia metatarsal type | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 756571000241111 | dysplasie tchèque type métatarsique (trouble) | fr | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 933861000172110 | dysplasie tchèque type métatarsique | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 3322201017 | A form of skeletal dysplasia with characteristics of severe arthropathy beginning in childhood and hypoplasia/dysplasia of the third, fourth and/or fifth toes. So far, less than 20 patients have been reported, including multiple members of five families from the Czech Republic. Stature and intelligence are normal. Radiographs reveal platyspondyly, irregular vertebral endplates, deformed femoral heads, pelvic dysplasia and narrowed intervertebral spaces. Mutations in the COL2A1 gene have been detected in several of the reported patients. Transmission is autosomal dominant. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR