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syndroom van albinisme met doofheid (aandoening)
syndroom van albinisme met doofheid
albinisme-doofheid-syndroom
Albinism with deafness syndrome
Syndrome with characteristics of congenital nerve deafness and piebaldness without ocular albinism. Transmission is X-linked with affected males presenting with profound sensorineural deafness and severe pigmentary abnormalities of the skin and carrier females presenting with variable hearing impairment without any pigmentary changes. The causative gene has been mapped to Xq26.3-q27.1.
Id722285005
StatusPrimitive
Associated morphologyhypopigmentatie
Finding sitestructuur van huid
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Interpretsgehoorfunctie
referentieset met complexe 'mapping' naar ICD-10
TargetH90.5
RuleTRUE
AdviceALWAYS H90.5
CorrelationSNOMED CT source code to target map code correlation not specified
TargetE70.3
RuleIFA 248153007 | Male (finding) |
AdviceIF MALE CHOOSE E70.3 | 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