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 |
| 3321274011 | Brachydactyly type A2 (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3321275012 | Brachydactyly type A2 | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3321276013 | Brachydactyly Mohr Wriedt type | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 755631000241117 | brachydactylie type A2 (trouble) | fr | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 978061000172111 | brachydactylie de Mohr-Wriedt | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 983841000172118 | brachydactylie type A2 | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 3321277016 | A congenital malformation with characteristics of shortening (hypoplasia or aplasia) of the middle phalanges of the index finger and sometimes of the little finger. Only a few cases have been reported in the literature. Affected individuals have a triangular shaped middle phalanx of the index fingers and in severely affected cases the index finger is curved radially. Can be caused by mutations in the BMPR1B gene on chromosome 4q or in the GDF5 gene on chromosome 20q11. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Brachydactyly type A2 (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Brachydactyly type A2 (disorder) | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Brachydactyly type A2 (disorder) | est un(e) (attribut) | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Brachydactyly type A2 (disorder) | est un(e) (attribut) | brachydactylie | true | Inferred relationship | Some | ||
| Brachydactyly type A2 (disorder) | morphologie associée (attribut) | Abnormally short growth | true | Inferred relationship | Some | 1 | |
| Brachydactyly type A2 (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| Brachydactyly type A2 (disorder) | localisation d'une constatation (attribut) | Entire digit | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Canada English language reference set (foundation metadata concept)
FHIR