Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3323703010 | Hidrotic ectodermal dysplasia Halal type (disorder) | en | Fully specified name | Active | Initial character case insensitive | SNOMED CT core |
3323704016 | Hidrotic ectodermal dysplasia Halal type | en | Synonym | Active | Initial character case insensitive | SNOMED CT core |
3323705015 | Ectodermal dysplasia with skin anomaly and intellectual disability | en | Synonym | Active | Case insensitive | SNOMED CT core |
3323706019 | Halal Setton Wang syndrome | en | Synonym | Active | Case sensitive | SNOMED CT core |
3323707011 | A form of ectodermal dysplasia syndrome with characteristics of trichodysplasia, with absent eyebrows and eyelashes, onychodysplasia, mild retrognathia, abnormal dermatoglyphics (excess of whorls on fingertips, radial loop on finger, hypothenar pattern), intellectual disability and normal teeth and sweating. Additional variable manifestations include high implanted or prominent ears, mild hearing loss, supernumerary nipple, café-au-lait spots, keratosis pilaris, and irregular menses. To date, four individuals from 2 generations of a consanguineous family of Portuguese descent have been described in the literature. Males and females were equally affected. Hidrotic ectodermal dysplasia, Halal type is inherited in an autosomal recessive manner. | 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
Problem/Diagnosis reference set
Description inactivation indicator reference set