| 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 | | 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. |
| | Id | 723720008 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q87.8 | | Term | Overige gespecificeerde congenitale gestoorde-ontwikkelingssyndromen, niet elders geclassificeerd |
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| SNOMED CT to Orphanet simple map | 139466 |
| SNOMED CT to ICD-10 extended map | | 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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