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 |
| 5402359018 | A rare multiple congenital anomalies syndrome, reported in the offsprings of a consanguineous couple and characterized by multiple congenital skeletal (dolichocephaly, skull asymmetry, camptodactyly, clubfoot), muscular (muscle hypoplasia), ocular (anophthalmia, buphthalmos, retinal detachment, aniridia) and cardiac (prolapse of tricuspid valves, mitral and tricuspid insufficiency) 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 |
| 5402360011 | A rare multiple congenital anomalies syndrome, reported in the offsprings of a consanguineous couple and characterised by multiple congenital skeletal (dolichocephaly, skull asymmetry, camptodactyly, clubfoot), muscular (muscle hypoplasia), ocular (anophthalmia, buphthalmos, retinal detachment, aniridia) and cardiac (prolapse of tricuspid valves, mitral and tricuspid insufficiency) 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) | Is a | Multiple system malformation syndrome | true | Inferred relationship | Some | ||
| Anophthalmia and megalocornea with cardiopathy and skeletal anomalies syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Anophthalmia and megalocornea with cardiopathy and skeletal anomalies syndrome (disorder) | Associated morphology | Developmental anomaly | false | Inferred relationship | Some | 1 | |
| Anophthalmia and megalocornea with cardiopathy and skeletal anomalies syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Anophthalmia and megalocornea with cardiopathy and skeletal anomalies syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | 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) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR