Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3755717011 | Lethal arteriopathy syndrome due to fibulin-4 deficiency (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3755718018 | Lethal arteriopathy syndrome due to fibulin-4 deficiency | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3755719014 | A rare genetic vascular disorder with characteristics of severe aneurysmal dilatation, elongation and tortuosity of the thoracic aorta, its branches and pulmonary arteries with stenosis at various typical locations, typically resulting in infantile demise. Variable associated features may include cutis laxa, long philtrum with thin vermillion border, hypertelorism, sagging cheeks, arachnodactyly, joint laxity and pectus deformities. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Lethal arteriopathy syndrome due to fibulin-4 deficiency (disorder) | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Lethal arteriopathy syndrome due to fibulin-4 deficiency (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Lethal arteriopathy syndrome due to fibulin-4 deficiency (disorder) | morphologie associée (attribut) | Aneurysm | true | Inferred relationship | Some | 1 | |
| Lethal arteriopathy syndrome due to fibulin-4 deficiency (disorder) | est un(e) (attribut) | Congenital arterial aneurysm | true | Inferred relationship | Some | ||
| Lethal arteriopathy syndrome due to fibulin-4 deficiency (disorder) | localisation d'une constatation (attribut) | structure de l'artère (structure corporelle) | true | Inferred relationship | Some | 1 | |
| Lethal arteriopathy syndrome due to fibulin-4 deficiency (disorder) | est un(e) (attribut) | Cardiovascular system hereditary disorder | true | Inferred relationship | Some | ||
| Lethal arteriopathy syndrome due to fibulin-4 deficiency (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| Lethal arteriopathy syndrome due to fibulin-4 deficiency (disorder) | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR