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 |
| 3321019015 | Anophthalmia and megalocornea with cardiopathy and skeletal anomalies syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3321020014 | Anophthalmia and megalocornea with cardiopathy and skeletal anomalies syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3321021013 | Cassia Stocco dos Santos syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3321022018 | A multiple congenital anomalies syndrome reported in the offsprings of a consanguineous couple with characteristics of multiple congenital skeletal, muscular, ocular and cardiac abnormalities. An autosomal recessive inheritance with variable expressivity was suspected. There have been no further descriptions in the literature since 1992. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Anophthalmia and megalocornea with cardiopathy and skeletal anomalies syndrome (disorder) | morphologie associée (attribut) | structure anormale sur le plan morphologique | true | Inferred relationship | Some | 1 | |
| Anophthalmia and megalocornea with cardiopathy and skeletal anomalies syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Anophthalmia and megalocornea with cardiopathy and skeletal anomalies syndrome (disorder) | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Anophthalmia and megalocornea with cardiopathy and skeletal anomalies syndrome (disorder) | est un(e) (attribut) | syndrome de malformations multisystémiques | true | Inferred relationship | Some | ||
| Anophthalmia and megalocornea with cardiopathy and skeletal anomalies syndrome (disorder) | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Anophthalmia and megalocornea with cardiopathy and skeletal anomalies syndrome (disorder) | morphologie associée (attribut) | Developmental abnormality | false | Inferred relationship | Some | 1 | |
| Anophthalmia and megalocornea with cardiopathy and skeletal anomalies syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR