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 | Reference Sets |
| 3318109015 | X-linked dominant chondrodysplasia Chassaing Lacombe type (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core | GB English: Preferred (foundation metadata concept) |
| 3318110013 | X-linked dominant chondrodysplasia Chassaing Lacombe type | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core | GB English: Preferred (foundation 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 | GB English: Preferred (foundation metadata concept) |
| 3916531000052115 | X-bunden dominant kondrodysplasi, Chassaing-Lacombes typ | sv | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Sweden NRC maintained module (core metadata concept) | Swedish [International Organization for Standardization 639-1 code sv] language reference set (foundation metadata concept): Preferred (foundation metadata concept) |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| X-linked dominant chondrodysplasia Chassaing Lacombe type (disorder) | Is a | X-linked hereditary disease | true | 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 | kongenital dysplasi | 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 | kongenital dysplasi | 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 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR