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Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder)
SERKAL syndrome
Sex reversion, kidney, adrenal and lung dysgenesis syndrome
SERKAL (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.
syndroom van geslachtsomkering en dysgenesie van nier, bijnier en long
SERKAL-syndroom
Id723720008
StatusPrimitive
Associated morphologyMorphologically abnormal structure
Finding siteKidney structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyMorphologically abnormal structure
Finding siteLung structure
OccurrenceCongenital
Pathological processPathological developmental process
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
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