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 |
| 3318109015 | X-linked dominant chondrodysplasia Chassaing Lacombe type (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3318110013 | X-linked dominant chondrodysplasia Chassaing Lacombe type | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 6168581000146110 | X-gebonden dominante chondrodysplasie-hydrocefalie-microftalmie | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 12689601000146112 | X-gebonden dominante chondrodysplasie Chassaing-Lacombe-type (aandoening) | nl | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 12739961000146118 | X-gebonden dominante chondrodysplasie Chassaing-Lacombe-type | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 12739971000146112 | X-gebonden dominante dyschondroplasie Chassaing-Lacombe-type | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 3318111012 | A rare genetic bone disorder with characteristics of chondrodysplasia, intrauterine growth retardation, hydrocephaly and facial dysmorphism in the affected males. The disease is severe and probably lethal in males, the clinical picture in females is less severe. The disease is due to a mutation in the histone deacetylase 6 HDAC6 gene (Xp11.3-q13.1) that causes a nucleotide substitution in the 3' untranslated region (UTR) of the HDAC6 transcript. This mutation lies in the seed sequence of microRNA-433 (hsa-miR-433) and abolishes the post-transcriptional regulation of HDAC6 expression by hsa-miR-433, resulting in the overexpression of the HDAC6 protein. Inheritance is X-linked dominant. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| X-linked dominant chondrodysplasia Chassaing Lacombe type (disorder) | Is a | X-linked hereditary disease | false | Inferred relationship | Some | ||
| X-linked dominant chondrodysplasia Chassaing Lacombe type (disorder) | Is a | Chondrodysplasia (disorder) | true | Inferred relationship | Some | ||
| X-linked dominant chondrodysplasia Chassaing Lacombe type (disorder) | Is a | Connective tissue hereditary disorder (disorder) | false | Inferred relationship | Some | ||
| X-linked dominant chondrodysplasia Chassaing Lacombe type (disorder) | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| X-linked dominant chondrodysplasia Chassaing Lacombe type (disorder) | Associated morphology | congenitale dysplasie (afwijkende morfologie) | false | Inferred relationship | Some | 2 | |
| X-linked dominant chondrodysplasia Chassaing Lacombe type (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 2 | |
| X-linked dominant chondrodysplasia Chassaing Lacombe type (disorder) | Finding site | Bone structure | false | Inferred relationship | Some | 2 | |
| X-linked dominant chondrodysplasia Chassaing Lacombe type (disorder) | Finding site | Bone structure | true | Inferred relationship | Some | 1 | |
| X-linked dominant chondrodysplasia Chassaing Lacombe type (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| X-linked dominant chondrodysplasia Chassaing Lacombe type (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| X-linked dominant chondrodysplasia Chassaing Lacombe type (disorder) | Associated morphology | congenitale dysplasie (afwijkende morfologie) | false | Inferred relationship | Some | 1 | |
| X-linked dominant chondrodysplasia Chassaing Lacombe type (disorder) | Associated morphology | Dysplasia | true | Inferred relationship | Some | 1 | |
| X-linked dominant chondrodysplasia Chassaing Lacombe type (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| X-linked dominant chondrodysplasia Chassaing Lacombe type (disorder) | Is a | X-linked dominant hereditary disease (disorder) | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR