Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3655694011 | Colobomatous microphthalmia, rhizomelic dysplasia syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3655695012 | Colobomatous microphthalmia, rhizomelic dysplasia syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3655696013 | Microphthalmia, coloboma, rhizomelic skeletal dysplasia | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 7879941000146118 | syndroom van colobomateuze microftalmie en 'rhizomelic dysplasia' | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 13584291000146116 | syndroom van colobomateuze microftalmie en rizomele dysplasie | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 13584301000146117 | syndroom van colobomateuze microftalmie en rizomele dysplasie (aandoening) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 3655697016 | A rare genetic developmental defect during embryogenesis with characteristics of a range of developmental eye anomalies (including anophthalmia, microphthalmia, colobomas, microcornea, corectopia, cataract) and symmetric limb rhizomelia with short stature and contractures of large joints. Intellectual disability with autistic features, macrocephaly, dysmorphic features, urogenital anomalies (hypospadia, cryptorchidism), cutaneous syndactyly and precocious puberty may also be present. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Colobomatous microphthalmia, rhizomelic dysplasia syndrome (disorder) | Is a | Autosomal hereditary disorder | true | Inferred relationship | Some | ||
| Colobomatous microphthalmia, rhizomelic dysplasia syndrome (disorder) | Is a | Congenital anomaly of eye | true | Inferred relationship | Some | ||
| Colobomatous microphthalmia, rhizomelic dysplasia syndrome (disorder) | Is a | Multiple system malformation syndrome | true | Inferred relationship | Some | ||
| Colobomatous microphthalmia, rhizomelic dysplasia syndrome (disorder) | Is a | Mesomelic dysplasia | false | Inferred relationship | Some | ||
| Colobomatous microphthalmia, rhizomelic dysplasia syndrome (disorder) | Is a | Short stature disorder | false | Inferred relationship | Some | ||
| Colobomatous microphthalmia, rhizomelic dysplasia syndrome (disorder) | Is a | Connective tissue hereditary disorder (disorder) | false | Inferred relationship | Some | ||
| Colobomatous microphthalmia, rhizomelic dysplasia syndrome (disorder) | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| Colobomatous microphthalmia, rhizomelic dysplasia syndrome (disorder) | Is a | Hereditary disorder of the visual system (disorder) | true | Inferred relationship | Some | ||
| Colobomatous microphthalmia, rhizomelic dysplasia syndrome (disorder) | Finding site | Bone structure | false | Inferred relationship | Some | 2 | |
| Colobomatous microphthalmia, rhizomelic dysplasia syndrome (disorder) | Associated morphology | congenitale dysplasie (afwijkende morfologie) | false | Inferred relationship | Some | 2 | |
| Colobomatous microphthalmia, rhizomelic dysplasia syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Colobomatous microphthalmia, rhizomelic dysplasia syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Colobomatous microphthalmia, rhizomelic dysplasia syndrome (disorder) | Associated morphology | gebrekkige ontwikkeling (afwijkende morfologie) | false | Inferred relationship | Some | 1 | |
| Colobomatous microphthalmia, rhizomelic dysplasia syndrome (disorder) | Finding site | Eye structure | true | Inferred relationship | Some | 1 | |
| Colobomatous microphthalmia, rhizomelic dysplasia syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Colobomatous microphthalmia, rhizomelic dysplasia syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Colobomatous microphthalmia, rhizomelic dysplasia syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Colobomatous microphthalmia, rhizomelic dysplasia syndrome (disorder) | Associated morphology | Dysplasia | true | Inferred relationship | Some | 2 | |
| Colobomatous microphthalmia, rhizomelic dysplasia syndrome (disorder) | Is a | Congenital anomaly of skeletal bone | false | Inferred relationship | Some | ||
| Colobomatous microphthalmia, rhizomelic dysplasia syndrome (disorder) | Clinical course | Progressive (qualifier value) | false | Inferred relationship | Some | 3 | |
| Colobomatous microphthalmia, rhizomelic dysplasia syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Colobomatous microphthalmia, rhizomelic dysplasia syndrome (disorder) | Interprets | Height / growth measure | false | Inferred relationship | Some | 4 | |
| Colobomatous microphthalmia, rhizomelic dysplasia syndrome (disorder) | Interprets | Limb length | true | Inferred relationship | Some | 3 | |
| Colobomatous microphthalmia, rhizomelic dysplasia syndrome (disorder) | Has interpretation | Below reference range | true | Inferred relationship | Some | 3 | |
| Colobomatous microphthalmia, rhizomelic dysplasia syndrome (disorder) | Finding site | Bone structure of extremity | true | Inferred relationship | Some | 2 | |
| Colobomatous microphthalmia, rhizomelic dysplasia syndrome (disorder) | Is a | Rhizomelic dysplasia (disorder) | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR