Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3324380017 | Bilateral microtia with deafness and cleft palate syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3324381018 | Bilateral microtia with deafness and cleft palate syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3324379015 | Syndrome with the association of bilateral microtia, severe to profound hearing impairment and cleft palate. It has been described in four individuals from a consanguineous Iranian family. The syndrome is caused by point mutations in the HOXA2 gene, a gene that has already been shown to be involved in development of the auditory system in mice. | 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