Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3465115018 | Marfanoid syndrome De Silva type (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3465116017 | Marfanoid syndrome De Silva type | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5403629012 | A rare syndromic intestinal malformation characterized by the association of marfanoid features (including marfanoid habitus, severe myopia, retinal detachment, and mitral valve prolapse) with visceral diverticula (inguinal and/or femoral hernia and diverticula of the large and small bowel or urinary bladder). Some patients also had diaphragmatic eventration. There have been no further descriptions in the literature since 1996. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5403630019 | A rare syndromic intestinal malformation characterised by the association of marfanoid features (including marfanoid habitus, severe myopia, retinal detachment, and mitral valve prolapse) with visceral diverticula (inguinal and/or femoral hernia and diverticula of the large and small bowel or urinary bladder). Some patients also had diaphragmatic eventration. There have been no further descriptions in the literature since 1996. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Marfanoid syndrome De Silva type (disorder) | Is a | Hereditary disease | false | Inferred relationship | Some | ||
| Marfanoid syndrome De Silva type (disorder) | Is a | Multiple system malformation syndrome | true | Inferred relationship | Some | ||
| Marfanoid syndrome De Silva type (disorder) | Is a | Disorder by body site | false | Inferred relationship | Some | ||
| Marfanoid syndrome De Silva type (disorder) | Is a | Marfanoid physique | true | Inferred relationship | Some | ||
| Marfanoid syndrome De Silva type (disorder) | Is a | Viscus structure finding (finding) | true | Inferred relationship | Some | ||
| Marfanoid syndrome De Silva type (disorder) | Interprets | Physique type | true | Inferred relationship | Some | 2 | |
| Marfanoid syndrome De Silva type (disorder) | Associated morphology | Congenital diverticulum | false | Inferred relationship | Some | 3 | |
| Marfanoid syndrome De Silva type (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 3 | |
| Marfanoid syndrome De Silva type (disorder) | Finding site | Structure of viscus | false | Inferred relationship | Some | 3 | |
| Marfanoid syndrome De Silva type (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Marfanoid syndrome De Silva type (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Marfanoid syndrome De Silva type (disorder) | Associated morphology | Congenital diverticulum | true | Inferred relationship | Some | 1 | |
| Marfanoid syndrome De Silva type (disorder) | Finding site | Structure of viscus | true | Inferred relationship | Some | 1 | |
| Marfanoid syndrome De Silva type (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