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 |
| 3316228014 | Lethal recessive chondrodysplasia (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3316229018 | Lethal recessive chondrodysplasia | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3316233013 | Maroteaux Stanescu Cousin syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3316234019 | An extremely rare lethal form of chondrodysplasia with characteristics of severe micromelic dwarfism, short and incurved limbs with normal hands and feet, facial dysmorphism (disproportionately large skull, frontal prominence, slightly flattened nasal bridge and short neck), muscular hypotonia, hyperlaxity of the extremities, and a narrow thorax. Most patients die of respiratory distress during the first hours or weeks of life. There have been no further descriptions in the literature since 1988. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3899271000052118 | dödlig recessiv kondrodysplasi | sv | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Sweden NRC maintained module (core metadata concept) |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Lethal recessive chondrodysplasia (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Lethal recessive chondrodysplasia (disorder) | Is a | Chondrodysplasia (disorder) | true | Inferred relationship | Some | ||
| Lethal recessive chondrodysplasia (disorder) | Is a | Connective tissue hereditary disorder (disorder) | false | Inferred relationship | Some | ||
| Lethal recessive chondrodysplasia (disorder) | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| Lethal recessive chondrodysplasia (disorder) | Associated morphology | kongenital dysplasi | false | Inferred relationship | Some | 2 | |
| Lethal recessive chondrodysplasia (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 2 | |
| Lethal recessive chondrodysplasia (disorder) | Finding site | Bone structure | false | Inferred relationship | Some | 2 | |
| Lethal recessive chondrodysplasia (disorder) | Associated morphology | kongenital dysplasi | false | Inferred relationship | Some | 1 | |
| Lethal recessive chondrodysplasia (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Lethal recessive chondrodysplasia (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Lethal recessive chondrodysplasia (disorder) | Finding site | Bone structure | true | Inferred relationship | Some | 1 | |
| Lethal recessive chondrodysplasia (disorder) | Associated morphology | Dysplasia | true | Inferred relationship | Some | 1 | |
| Lethal recessive chondrodysplasia (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