| syndroom van doofheid en hypogonadisme (aandoening) | | syndroom van doofheid en hypogonadisme | | doofheid-hypogonadisme-syndroom
| | Deafness and hypogonadism syndrome | | This syndrome is characterized by the association of congenital mixed hearing loss with perilymphatic gusher, hypogonadism and abnormal behavior. It has been described in five related males. Inheritance appears to be X-linked recessive and a microdeletion, encompassing the POU3F4 gene (DFN3 locus), was detected in one of the patients leading to the suggestion that deafness hypogonadism is a contiguous gene deletion syndrome. |
| | Id | 718714006 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 90646 |
| SNOMED CT to ICD-10 extended map | | Target | H90.5 | | Rule | TRUE | | Advice | ALWAYS H90.5 | | Correlation | SNOMED CT source code to target map code correlation not specified |
| Target | E28.3 | | Rule | IFA 248152002 | Female (finding) | | | Advice | IF FEMALE CHOOSE E28.3 | MAP IS CONTEXT DEPENDENT FOR GENDER | | Correlation | SNOMED CT source code to target map code correlation not specified |
| Target | E29.1 | | Rule | IFA 248153007 | Male (finding) | | | Advice | IF MALE CHOOSE E29.1 | MAP IS CONTEXT DEPENDENT FOR GENDER | | Correlation | SNOMED CT source code to target map code correlation not specified |
| Target | | | Rule | OTHERWISE TRUE | | Advice | MAP SOURCE CONCEPT CANNOT BE CLASSIFIED WITH AVAILABLE DATA | | Correlation | SNOMED CT source code to target map code correlation not specified |
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