Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3756539016 | Chondrodysplasia with joint dislocations gPAPP type (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3756540019 | Chondrodysplasia with joint dislocations gPAPP type | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3756542010 | A rare genetic primary bone dysplasia characterized by prenatal onset of disproportionate short stature, shortening of the limbs, congenital joint dislocations, micrognathia, posterior cleft palate, brachydactyly, short metacarpals and irregular size of the metacarpal epiphyses, supernumerary carpal ossification centers and dysmorphic facial features. In addition, hearing impairment and mild psychomotor delay have also been reported. Caused by homozygous mutation in the IMPAD1 gene on chromosome 8q12. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3756543017 | A rare genetic primary bone dysplasia characterised by prenatal onset of disproportionate short stature, shortening of the limbs, congenital joint dislocations, micrognathia, posterior cleft palate, brachydactyly, short metacarpals and irregular size of the metacarpal epiphyses, supernumerary carpal ossification centres and dysmorphic facial features. In addition, hearing impairment and mild psychomotor delay have also been reported. Caused by homozygous mutation in the IMPAD1 gene on chromosome 8q12. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Chondrodysplasia with joint dislocations gPAPP type (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Chondrodysplasia with joint dislocations gPAPP type (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Chondrodysplasia with joint dislocations gPAPP type (disorder) | Finding site | Bone structure | true | Inferred relationship | Some | 1 | |
| Chondrodysplasia with joint dislocations gPAPP type (disorder) | Is a | Multiple dislocations with dysplasia (disorder) | true | Inferred relationship | Some | ||
| Chondrodysplasia with joint dislocations gPAPP type (disorder) | Associated morphology | Dysplasia | true | Inferred relationship | Some | 1 | |
| Chondrodysplasia with joint dislocations gPAPP type (disorder) | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| Chondrodysplasia with joint dislocations gPAPP type (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Chondrodysplasia with joint dislocations gPAPP type (disorder) | Is a | Chondrodysplasia (disorder) | true | Inferred relationship | Some | ||
| Chondrodysplasia with joint dislocations gPAPP type (disorder) | Finding site | Joint structure of multiple body sites (body structure) | true | Inferred relationship | Some | 2 | |
| Chondrodysplasia with joint dislocations gPAPP type (disorder) | Associated morphology | Dislocation | true | Inferred relationship | Some | 2 | |
| Chondrodysplasia with joint dislocations gPAPP type (disorder) | Clinical course | Progressive (qualifier value) | true | Inferred relationship | Some | 3 | |
| Chondrodysplasia with joint dislocations gPAPP type (disorder) | Due to | Spontaneous event (event) | true | Inferred relationship | Some | 4 | |
| Chondrodysplasia with joint dislocations gPAPP type (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Chondrodysplasia with joint dislocations gPAPP type (disorder) | Associated morphology | Damage | false | Inferred relationship | Some | 5 | |
| Chondrodysplasia with joint dislocations gPAPP type (disorder) | Is a | Bone injury | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Description inactivation indicator reference set
FHIR