Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3499487014 | Camptodactyly taurinuria syndrome (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
3499488016 | Camptodactyly taurinuria syndrome | en | Synonym | Active | Case insensitive | SNOMED CT core |
3499489012 | Familial streblodactyly with amino-aciduria | en | Synonym | Active | Case insensitive | SNOMED CT core |
3500007015 | A congenital malformation syndrome with the association of a permanent camptodactyly of the fingers and the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966. | en | Definition | Active | Case sensitive | SNOMED CT core |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Australian dialect reference set
Musculoskeletal finding reference set
Problem/Diagnosis reference set
Description inactivation indicator reference set