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 |
| 755521000241115 | syndrome d'aplasie cutanée congénitale-lymphangiectasie intestinale (trouble) | fr | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 980851000172113 | syndrome d'aplasie cutanée congénitale-lymphangiectasie intestinale | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 998861000172113 | aplasie cutanée congénitale autosomique récessive | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 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 |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Aplasia cutis congenita with intestinal lymphangiectasia syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| Aplasia cutis congenita with intestinal lymphangiectasia syndrome (disorder) | morphologie associée (attribut) | Lymphangiectasis (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Aplasia cutis congenita with intestinal lymphangiectasia syndrome (disorder) | est un(e) (attribut) | 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) | localisation d'une constatation (attribut) | Structure of lymphatic vessel of intestine (body structure) | true | Inferred relationship | Some | 1 | |
| Aplasia cutis congenita with intestinal lymphangiectasia syndrome (disorder) | est un(e) (attribut) | Congenital anomaly of abdomen | false | Inferred relationship | Some | ||
| Aplasia cutis congenita with intestinal lymphangiectasia syndrome (disorder) | est un(e) (attribut) | Congenital anomaly of lymphatic structure of trunk | true | Inferred relationship | Some | ||
| Aplasia cutis congenita with intestinal lymphangiectasia syndrome (disorder) | est un(e) (attribut) | Congenital lymphangiectasia | true | Inferred relationship | Some | ||
| Aplasia cutis congenita with intestinal lymphangiectasia syndrome (disorder) | est un(e) (attribut) | Congenital anomaly of lower trunk | true | Inferred relationship | Some | ||
| Aplasia cutis congenita with intestinal lymphangiectasia syndrome (disorder) | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Aplasia cutis congenita with intestinal lymphangiectasia syndrome (disorder) | morphologie associée (attribut) | Aplasia | true | Inferred relationship | Some | 2 | |
| Aplasia cutis congenita with intestinal lymphangiectasia syndrome (disorder) | est un(e) (attribut) | aplasia cutis congenita (trouble) | true | Inferred relationship | Some | ||
| Aplasia cutis congenita with intestinal lymphangiectasia syndrome (disorder) | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Aplasia cutis congenita with intestinal lymphangiectasia syndrome (disorder) | est un(e) (attribut) | lymphangiectasie intestinale | true | Inferred relationship | Some | ||
| Aplasia cutis congenita with intestinal lymphangiectasia syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of the integument | true | Inferred relationship | Some | ||
| Aplasia cutis congenita with intestinal lymphangiectasia syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of lymphatic system (disorder) | true | Inferred relationship | Some | ||
| Aplasia cutis congenita with intestinal lymphangiectasia syndrome (disorder) | morphologie associée (attribut) | Congenital absence | false | Inferred relationship | Some | 2 | |
| Aplasia cutis congenita with intestinal lymphangiectasia syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 2 | |
| Aplasia cutis congenita with intestinal lymphangiectasia syndrome (disorder) | localisation d'une constatation (attribut) | Skin part | true | Inferred relationship | Some | 2 | |
| Aplasia cutis congenita with intestinal lymphangiectasia syndrome (disorder) | morphologie associée (attribut) | Lymphangiectasis (morphologic abnormality) | false | Inferred relationship | Some | 3 | |
| Aplasia cutis congenita with intestinal lymphangiectasia syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 3 | |
| Aplasia cutis congenita with intestinal lymphangiectasia syndrome (disorder) | localisation d'une constatation (attribut) | Structure of lymphatic vessel of intestine (body structure) | false | Inferred relationship | Some | 3 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR