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 |
3318544012 | Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3318545013 | Trichomegaly with retina pigmentary degeneration and dwarfism syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3318546014 | Oliver McFarlane syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3318547017 | This syndrome has characteristics of growth retardation, alopecia, abnormally long eyelashes and retinitis pigmentosa. Moderate intellectual deficit was also present in the majority of cases. To date, 11 cases have been reported. Transmission is thought to be autosomal recessive. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3909051000052113 | Oliver-McFarlanes syndrom | sv | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Sweden NRC maintained module (core metadata concept) |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder) | Is a | Ectodermal dysplasia | true | Inferred relationship | Some | ||
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder) | Is a | Congenital anomaly of hair | true | Inferred relationship | Some | ||
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder) | Is a | Congenital anomaly of eyelid | true | Inferred relationship | Some | ||
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder) | Is a | Degeneration of retina | true | Inferred relationship | Some | ||
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder) | Is a | Short stature disorder | true | Inferred relationship | Some | ||
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder) | Is a | Hereditary disorder of the integument | true | Inferred relationship | Some | ||
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder) | Is a | Hereditary disorder of the visual system (disorder) | true | Inferred relationship | Some | ||
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder) | Is a | Deformity of eyelid (disorder) | true | Inferred relationship | Some | ||
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 4 | |
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 5 | |
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 6 | |
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 7 | |
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder) | Associated morphology | utvecklingsabnormitet | false | Inferred relationship | Some | 4 | |
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder) | Finding site | Skin structure | false | Inferred relationship | Some | 4 | |
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder) | Associated morphology | kongenital dysplasi | false | Inferred relationship | Some | 5 | |
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder) | Finding site | Ectoderm structure | false | Inferred relationship | Some | 5 | |
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder) | Associated morphology | Pigmentary degeneration | false | Inferred relationship | Some | 6 | |
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder) | Finding site | Retinal structure | false | Inferred relationship | Some | 6 | |
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder) | Associated morphology | Abnormally long growth | false | Inferred relationship | Some | 7 | |
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder) | Finding site | Entire eyelashes | false | Inferred relationship | Some | 7 | |
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder) | Finding site | Entire eyelashes | true | Inferred relationship | Some | 2 | |
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder) | Associated morphology | Abnormally long growth | true | Inferred relationship | Some | 2 | |
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | false | Inferred relationship | Some | 4 | |
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder) | Is a | Congenital anomaly of retina | true | Inferred relationship | Some | ||
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | false | Inferred relationship | Some | 4 | |
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder) | Associated morphology | Pigmentary degeneration | true | Inferred relationship | Some | 3 | |
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder) | Associated morphology | kongenital dysplasi | false | Inferred relationship | Some | 1 | |
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder) | Finding site | Retinal structure | true | Inferred relationship | Some | 3 | |
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder) | Finding site | Ectoderm structure | true | Inferred relationship | Some | 1 | |
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder) | Is a | Congenital deformity of face (disorder) | true | Inferred relationship | Some | ||
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder) | Is a | Disorder of hair growth | true | Inferred relationship | Some | ||
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder) | Associated morphology | Dysplasia | true | Inferred relationship | Some | 1 | |
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder) | Interprets | Height / growth measure | true | Inferred relationship | Some | 4 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets