Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3444136017 | Bullous dystrophy macular type (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3444137014 | Bullous dystrophy macular type | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3444138016 | A genetic disorder with characteristics of formation of bullae without traumatic origin, alopecia, hyperpigmentation, acrocyanosis, short stature, microcephaly, intellectual deficit, tapering fingers and nail abnormalities. Two families (one of whom was Dutch and the other Italian) have been described up to now, in which only males were affected. Transmission is X-linked recessive. The bullous dystrophy locus has been mapped to Xq26.3 in the Italian family and to Xq27.3 in the Dutch family. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3994841000052117 | bullös dystrofi, makulär typ | sv | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Sweden NRC maintained module (core metadata concept) |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Bullous dystrophy macular type (disorder) | Is a | Bullous dermatosis | false | Inferred relationship | Some | ||
| Bullous dystrophy macular type (disorder) | Is a | mental retardation | false | Inferred relationship | Some | ||
| Bullous dystrophy macular type (disorder) | Is a | X-linked hereditary disease | false | Inferred relationship | Some | ||
| Bullous dystrophy macular type (disorder) | Is a | Hereditary disorder of the integument | true | Inferred relationship | Some | ||
| Bullous dystrophy macular type (disorder) | Associated morphology | Blister | true | Inferred relationship | Some | 1 | |
| Bullous dystrophy macular type (disorder) | Finding site | Skin structure | true | Inferred relationship | Some | 1 | |
| Bullous dystrophy macular type (disorder) | Is a | Intellectual disability | true | Inferred relationship | Some | ||
| Bullous dystrophy macular type (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Bullous dystrophy macular type (disorder) | Is a | Blister of skin | true | Inferred relationship | Some | ||
| Bullous dystrophy macular type (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Bullous dystrophy macular type (disorder) | Is a | X-linked recessive hereditary disease | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR