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 |
| 3321039016 | Aplasia cutis congenita with intestinal lymphangiectasia syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3321040019 | Aplasia cutis congenita with intestinal lymphangiectasia syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3321041015 | Bronspiegel Zelnick syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3321042010 | An extremely rare association syndrome, described in only two brothers to date (one of which died at 2 months of age), characterized by aplasia cutis congenita of the vertex and generalized edema (as well as hypoproteinemia and lymphopenia) due to intestinal lymphangiectasia. There have been no further descriptions in the literature since 1985. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3321043017 | An extremely rare association syndrome, described in only two brothers to date (one of which died at 2 months of age), characterised by aplasia cutis congenita of the vertex and generalised oedema (as well as hypoproteinaemia and lymphopenia) due to intestinal lymphangiectasia. There have been no further descriptions in the literature since 1985. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 980851000172113 | syndrome d'aplasie cutanée congénitale-lymphangiectasie intestinale | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
| 998861000172113 | aplasie cutanée congénitale autosomique récessive | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Aplasia cutis congenita with intestinal lymphangiectasia syndrome (disorder) | Is a | Aplasia cutis congenita | true | Inferred relationship | Some | ||
| Aplasia cutis congenita with intestinal lymphangiectasia syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Aplasia cutis congenita with intestinal lymphangiectasia syndrome (disorder) | Is a | Intestinal lymphangiectasis | true | Inferred relationship | Some | ||
| Aplasia cutis congenita with intestinal lymphangiectasia syndrome (disorder) | Is a | Hereditary disorder of the integument | true | Inferred relationship | Some | ||
| Aplasia cutis congenita with intestinal lymphangiectasia syndrome (disorder) | Is a | Hereditary disorder of lymphatic system (disorder) | true | Inferred relationship | Some | ||
| Aplasia cutis congenita with intestinal lymphangiectasia syndrome (disorder) | Associated morphology | Congenital absence (morphologic abnormality) | false | Inferred relationship | Some | 2 | |
| Aplasia cutis congenita with intestinal lymphangiectasia syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Aplasia cutis congenita with intestinal lymphangiectasia syndrome (disorder) | Finding site | Skin part | true | Inferred relationship | Some | 2 | |
| Aplasia cutis congenita with intestinal lymphangiectasia syndrome (disorder) | Associated morphology | Lymphangiectasis | false | Inferred relationship | Some | 3 | |
| Aplasia cutis congenita with intestinal lymphangiectasia syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 3 | |
| Aplasia cutis congenita with intestinal lymphangiectasia syndrome (disorder) | Finding site | Structure of lymphatic vessel of intestine (body structure) | false | Inferred relationship | Some | 3 | |
| Aplasia cutis congenita with intestinal lymphangiectasia syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Aplasia cutis congenita with intestinal lymphangiectasia syndrome (disorder) | Associated morphology | Lymphangiectasis | true | Inferred relationship | Some | 1 | |
| Aplasia cutis congenita with intestinal lymphangiectasia syndrome (disorder) | Is a | Lymphatic malformation | false | Inferred relationship | Some | ||
| Aplasia cutis congenita with intestinal lymphangiectasia syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Aplasia cutis congenita with intestinal lymphangiectasia syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Aplasia cutis congenita with intestinal lymphangiectasia syndrome (disorder) | Finding site | Structure of lymphatic vessel of intestine (body structure) | true | Inferred relationship | Some | 1 | |
| Aplasia cutis congenita with intestinal lymphangiectasia syndrome (disorder) | Is a | Congenital anomaly of abdomen | false | Inferred relationship | Some | ||
| Aplasia cutis congenita with intestinal lymphangiectasia syndrome (disorder) | Is a | Congenital anomaly of lymphatic structure of trunk (disorder) | true | Inferred relationship | Some | ||
| Aplasia cutis congenita with intestinal lymphangiectasia syndrome (disorder) | Is a | Congenital lymphangiectasia | true | Inferred relationship | Some | ||
| Aplasia cutis congenita with intestinal lymphangiectasia syndrome (disorder) | Is a | Congenital anomaly of lower trunk | true | Inferred relationship | Some | ||
| Aplasia cutis congenita with intestinal lymphangiectasia syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Aplasia cutis congenita with intestinal lymphangiectasia syndrome (disorder) | Associated morphology | Aplasia | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR