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 |
| 3322281019 | Chondrodysplasia with disorder of sex development syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3322282014 | Chondrodysplasia with disorder of sex development syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3322283016 | Chondrodysplasia pseudohermaphroditism syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3322284010 | Nivelon Nivelon Mabille syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 6257971000146112 | syndroom van Nivelon-Nivelon-Mabille | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6952131000146111 | syndroom van chondrodysplasie en geslachtsontwikkelingsstoornis (aandoening) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6952141000146115 | syndroom van chondrodysplasie en geslachtsontwikkelingsstoornis | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 3322287015 | An extremely rare disorder of sex development, reported in only two siblings to date. The syndrome has clinical features of 46,XY complete gonadal dysgenesis in association with severe dwarfism with generalized chondrodysplasia (bell-shaped thorax, micromelia, brachydactyly). Other reported features in the live sibling included eye anomalies, dysmorphic features, muscular hypoplasia, mild intellectual deficiency and severe microcephaly with cerebellar vermis hypoplasia. An autosomal recessive inheritance has been suggested. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3322288013 | An extremely rare disorder of sex development, reported in only two siblings to date. The syndrome has clinical features of 46,XY complete gonadal dysgenesis in association with severe dwarfism with generalised chondrodysplasia (bell-shaped thorax, micromelia, brachydactyly). Other reported features in the live sibling included eye anomalies, dysmorphic features, muscular hypoplasia, mild intellectual deficiency and severe microcephaly with cerebellar vermis hypoplasia. An autosomal recessive inheritance has been suggested. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Chondrodysplasia with disorder of sex development syndrome (disorder) | Is a | Multiple system malformation syndrome | true | Inferred relationship | Some | ||
| Chondrodysplasia with disorder of sex development syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Chondrodysplasia with disorder of sex development syndrome (disorder) | Is a | Pure gonadal dysgenesis 46,XY | true | Inferred relationship | Some | ||
| Chondrodysplasia with disorder of sex development syndrome (disorder) | Is a | Chondrodysplasia (disorder) | true | Inferred relationship | Some | ||
| Chondrodysplasia with disorder of sex development syndrome (disorder) | Is a | Short stature disorder | true | Inferred relationship | Some | ||
| Chondrodysplasia with disorder of sex development syndrome (disorder) | Is a | Connective tissue hereditary disorder (disorder) | false | Inferred relationship | Some | ||
| Chondrodysplasia with disorder of sex development syndrome (disorder) | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| Chondrodysplasia with disorder of sex development syndrome (disorder) | Is a | Reproductive system hereditary disorder | true | Inferred relationship | Some | ||
| Chondrodysplasia with disorder of sex development syndrome (disorder) | Associated morphology | gebrekkige ontwikkeling (afwijkende morfologie) | false | Inferred relationship | Some | 3 | |
| Chondrodysplasia with disorder of sex development syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 3 | |
| Chondrodysplasia with disorder of sex development syndrome (disorder) | Finding site | Gonadal structure | false | Inferred relationship | Some | 3 | |
| Chondrodysplasia with disorder of sex development syndrome (disorder) | Associated morphology | congenitale dysplasie (afwijkende morfologie) | false | Inferred relationship | Some | 4 | |
| Chondrodysplasia with disorder of sex development syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 4 | |
| Chondrodysplasia with disorder of sex development syndrome (disorder) | Finding site | Bone structure | false | Inferred relationship | Some | 4 | |
| Chondrodysplasia with disorder of sex development syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Chondrodysplasia with disorder of sex development syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Chondrodysplasia with disorder of sex development syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Chondrodysplasia with disorder of sex development syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Chondrodysplasia with disorder of sex development syndrome (disorder) | Finding site | Bone structure | true | Inferred relationship | Some | 1 | |
| Chondrodysplasia with disorder of sex development syndrome (disorder) | Associated morphology | congenitale dysplasie (afwijkende morfologie) | false | Inferred relationship | Some | 1 | |
| Chondrodysplasia with disorder of sex development syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
| Chondrodysplasia with disorder of sex development syndrome (disorder) | Finding site | Gonadal structure | true | Inferred relationship | Some | 2 | |
| Chondrodysplasia with disorder of sex development syndrome (disorder) | Associated morphology | Dysplasia | true | Inferred relationship | Some | 1 | |
| Chondrodysplasia with disorder of sex development syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Chondrodysplasia with disorder of sex development syndrome (disorder) | Interprets | Height / growth measure | true | Inferred relationship | Some | 3 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR