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
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| Id | 723720008 | Status | Primitive |
DHD Diagnosis thesaurus reference set |
ICD-10 complex map reference set | Target | Q87.8 | Rule | TRUE | Advice | ALWAYS Q87.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | Correlation | SNOMED CT source code to target map code correlation not specified |
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