Status: current, Primitive. Date: 31-Jul 2016. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3305231014 | Cleft lip and cleft palate with ectodermal dysplasia syndrome (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
3305232019 | Cleft lip and cleft palate with ectodermal dysplasia syndrome | en | Synonym | Active | Case insensitive | SNOMED CT core |
3305233012 | Zlotogora Ogur syndrome | en | Synonym | Active | Case sensitive | SNOMED CT core |
3305234018 | Cleft lip and palate with syndactyly and pili torti | en | Synonym | Active | Case insensitive | SNOMED CT core |
3305235017 | Zlotogora Zilberman Tenenbaum syndrome | en | Synonym | Active | Case sensitive | SNOMED CT core |
3305236016 | Zlotogora-Ogur syndrome is an ectodermal dysplasia syndrome with characteristics of hair, skin and teeth anomalies, facial dysmorphism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability.The prevalence is unknown but to date, less than 50 cases have been described in the literature. Caused by mutations in the gene PVRL1 (11q23-q24) which encodes nectin-1, the principal receptor used by alpha-herpesviruses to mediate entry into human cells. Transmission is autosomal recessive. | en | Definition | Active | Case sensitive | SNOMED CT core |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Queensland allied health clinical finding reference set
Clinical finding foundation reference set
Problem/Diagnosis reference set
Description inactivation indicator reference set