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 |
| 3326417011 | Microphthalmia with brain and digit anomaly (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3326421016 | Microphthalmia with brain and digit anomaly | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3326422011 | Bakrania Ragge syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3326423018 | Syndromic microphthalmia type 6 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3326424012 | This syndrome has characteristics of anophthalmia or microphthalmia, retinal dystrophy, and/or myopia, associated in some cases with cerebral anomalies. It has been described in two families. Polydactyly may also be present. Linkage analysis allowed identification of mutations in the BMP4 gene, which has already been shown to play a role in eye development. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4168131000172119 | syndroom van Bakrania-Ragge | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| 4168141000172114 | microftalmie met afwijking van hersenen en afwijking van vinger of teen | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| 4168151000172111 | syndroom van microftalmie met afwijking van hersenen en digitus | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| 4168161000172113 | Bakrania-Ragge-syndroom | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | Belgian module (core metadata concept) |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Microphthalmia with brain and digit anomaly (disorder) | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Microphthalmia with brain and digit anomaly (disorder) | Is a | Congenital anomaly of eye | true | Inferred relationship | Some | ||
| Microphthalmia with brain and digit anomaly (disorder) | Is a | Hereditary disorder of the visual system (disorder) | true | Inferred relationship | Some | ||
| Microphthalmia with brain and digit anomaly (disorder) | Associated morphology | Developmental anomaly | false | Inferred relationship | Some | 1 | |
| Microphthalmia with brain and digit anomaly (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Microphthalmia with brain and digit anomaly (disorder) | Finding site | Eye structure | true | Inferred relationship | Some | 1 | |
| Microphthalmia with brain and digit anomaly (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Microphthalmia with brain and digit anomaly (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Microphthalmia with brain and digit anomaly (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