Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3723375011 | Distal arthrogryposis type 5D (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3723376012 | Distal arthrogryposis type 5D | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3723377015 | Distal arthrogryposis type 5 without ophthalmoparesis | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3723378013 | Distal arthrogryposis type 5 without ophthalmoplegia | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3723379017 | DA5D - distal arthrogryposis type 5D | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3723380019 | A rare subtype of distal arthrogryposis syndrome with characteristics of arthrogryposis multiplex congenita affecting the hands, feet, ankle, shoulders and/or neck, with camptodactyly of the fingers and limited knee and hip extension, associated with asymmetric ptosis and, less frequently, other ocular manifestations (for example ophthalmoplegia, strabismus). Affected individuals frequently have a bulbous nose, furrowed tongue, micro/retrognathia, a short neck, congenital hip dislocation, clubfeet, scoliosis and short stature. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the ECEL1 gene on chromosome 2q36. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4223711000052117 | distal artrogrypos, typ 5D | sv | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Sweden NRC maintained module (core metadata concept) |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Distal arthrogryposis type 5D (disorder) | Associated morphology | Contracture | true | Inferred relationship | Some | 1 | |
| Distal arthrogryposis type 5D (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Distal arthrogryposis type 5D (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Distal arthrogryposis type 5D (disorder) | Is a | Distal arthrogryposis syndrome | true | Inferred relationship | Some | ||
| Distal arthrogryposis type 5D (disorder) | Finding site | Joint structure | false | Inferred relationship | Some | 1 | |
| Distal arthrogryposis type 5D (disorder) | Has interpretation | Decreased | true | Inferred relationship | Some | 2 | |
| Distal arthrogryposis type 5D (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Distal arthrogryposis type 5D (disorder) | Interprets | Range of joint movement | true | Inferred relationship | Some | 2 | |
| Distal arthrogryposis type 5D (disorder) | Finding site | Structure of joint region | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR