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syndroom van geslachtsomkering en dysgenesie van nier, bijnier en long (aandoening)
syndroom van geslachtsomkering en dysgenesie van nier, bijnier en long
SERKAL-syndroom
SERKAL syndrome
SERKAL (sex reversion, kidney, adrenal and lung dysgenesis) syndrome
Sex reversion, kidney, adrenal and lung dysgenesis syndrome
Syndrome that has characteristics of female to male sex reversal and developmental anomalies of the kidneys, adrenal glands and lungs. The syndrome is lethal and has been described in three fetuses. It is caused by homozygous missense mutations in the WNT4 gene. It is transmitted as an autosomal recessive trait.
Id723720008
StatusPrimitive
Associated morphologymorfologische afwijking
Finding sitestructuur van gonade
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologymorfologische afwijking
Finding sitestructuur van long
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologymorfologische afwijking
Finding sitestructuur van nier
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetQ87.8
RuleTRUE
AdviceALWAYS Q87.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified