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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.
Id718714006
StatusPrimitive
Interpretsgehoorfunctie
Finding sitestructuur van auris
Occurrencecongenitaal
referentieset met complexe 'mapping' naar ICD-10
TargetH90.5
RuleTRUE
AdviceALWAYS H90.5
CorrelationSNOMED CT source code to target map code correlation not specified
TargetE28.3
RuleIFA 248152002 | Female (finding) |
AdviceIF FEMALE CHOOSE E28.3 | MAP IS CONTEXT DEPENDENT FOR GENDER
CorrelationSNOMED CT source code to target map code correlation not specified
TargetE29.1
RuleIFA 248153007 | Male (finding) |
AdviceIF MALE CHOOSE E29.1 | MAP IS CONTEXT DEPENDENT FOR GENDER
CorrelationSNOMED CT source code to target map code correlation not specified
Target
RuleOTHERWISE TRUE
AdviceMAP SOURCE CONCEPT CANNOT BE CLASSIFIED WITH AVAILABLE DATA
CorrelationSNOMED CT source code to target map code correlation not specified