Status: current, Primitive. Date: 31-Jul 2019. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3756680018 | Dermotrichic syndrome | en | Synonym | Active | Case insensitive | SNOMED CT core |
3756681019 | Dermotrichic syndrome (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
3756682014 | A rare genetic ectodermal dysplasia syndrome characterized by skin, hair and nail anomalies (such as generalized ichthyosis, congenital alopecia universalis, dystrophic, convex nails), associated with hypohidrosis without hyperthermia, intellectual disability, seizures, and skeletal (for example proportionate short stature, platyspondyly) and intestinal (for example congenital aganglionic megacolon) anomalies. Facial dysmorphism includes frontal bossing, blepharophimosis, large ears, low nasal bridge and small nose. There have been no further descriptions in the literature since 1992. | en | Definition | Active | Case sensitive | SNOMED CT core |
3756683016 | A rare genetic ectodermal dysplasia syndrome characterised by skin, hair and nail anomalies (such as generalised ichthyosis, congenital alopecia universalis, dystrophic, convex nails), associated with hypohidrosis without hyperthermia, intellectual disability, seizures, and skeletal (for example proportionate short stature, platyspondyly) and intestinal (for example congenital aganglionic megacolon) anomalies. Facial dysmorphism includes frontal bossing, blepharophimosis, large ears, low nasal bridge and small nose. There have been no further descriptions in the literature since 1992. | 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