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 |
| 1007421000172112 | chondrodysplasie dominante liée à l'X type Chassaing-Lacombe | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 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 |
| 754971000241110 | chondrodysplasie dominante liée à l'X type Chassaing-Lacombe (trouble) | fr | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 940891000172113 | syndrome de chondrodysplasie dominante lié à l'X, hydrocéphalie, microphtalmie | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation 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 |
| chondrodysplasie dominante liée à l'X type Chassaing-Lacombe | localisation d'une constatation (attribut) | structure osseuse | true | Inferred relationship | Some | 1 | |
| chondrodysplasie dominante liée à l'X type Chassaing-Lacombe | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| chondrodysplasie dominante liée à l'X type Chassaing-Lacombe | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| chondrodysplasie dominante liée à l'X type Chassaing-Lacombe | morphologie associée (attribut) | Congenital dysplasia | false | Inferred relationship | Some | 1 | |
| chondrodysplasie dominante liée à l'X type Chassaing-Lacombe | morphologie associée (attribut) | dysplasie | true | Inferred relationship | Some | 1 | |
| chondrodysplasie dominante liée à l'X type Chassaing-Lacombe | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| chondrodysplasie dominante liée à l'X type Chassaing-Lacombe | est un(e) (attribut) | X-linked dominant hereditary disease (disorder) | true | Inferred relationship | Some | ||
| chondrodysplasie dominante liée à l'X type Chassaing-Lacombe | est un(e) (attribut) | X-linked hereditary disease | false | Inferred relationship | Some | ||
| chondrodysplasie dominante liée à l'X type Chassaing-Lacombe | est un(e) (attribut) | Chondrodysplasia | true | Inferred relationship | Some | ||
| chondrodysplasie dominante liée à l'X type Chassaing-Lacombe | est un(e) (attribut) | Connective tissue hereditary disorder | false | Inferred relationship | Some | ||
| chondrodysplasie dominante liée à l'X type Chassaing-Lacombe | est un(e) (attribut) | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| chondrodysplasie dominante liée à l'X type Chassaing-Lacombe | morphologie associée (attribut) | Congenital dysplasia | false | Inferred relationship | Some | 2 | |
| chondrodysplasie dominante liée à l'X type Chassaing-Lacombe | survenue (attribut) | congénital | false | Inferred relationship | Some | 2 | |
| chondrodysplasie dominante liée à l'X type Chassaing-Lacombe | localisation d'une constatation (attribut) | structure osseuse | false | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR