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 |
3424891015 | Revesz syndrome (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3424892010 | Revesz syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3424893017 | Dyskeratosis congenita with bilateral exudative retinopathy | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3424894011 | Retinopathy, anemia, central nervous system anomalies syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3424895012 | Retinopathy, anaemia, central nervous system anomalies syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3424896013 | Revesz DeBuse syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3424897016 | A rare severe phenotypic variant of dyskeratosis congenita with onset in early childhood. The syndrome has features of dyskeratosis congenita (for example skin hyper/hypopigmentation, nail dystrophy, high risk of bone marrow failure and cancer, developmental delay sparse and fine hair) in conjunction with bilateral exudative retinopathy and intracranial calcifications. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets