syndroom van anomalie van ductus paramesonephricus en extremiteit (aandoening) | | syndroom van anomalie van gang van Müller en extremiteit | | syndroom van anomalie van ductus paramesonephricus en extremiteit syndroom van anomalie van buis van Müller en extremiteit
| | Mullerian duct and limb anomalies syndrome | | Syndrome with the association of mullerian duct and distal limb anomalies. It has been described in five individuals from one family. Females presented with anomalies ranging from a vaginal septum to complete duplication of uterus and vagina, and males presented with micropenis. The limb anomalies varied from postaxial polydactyly to severe upper limb hypoplasia with split hand. The mode of transmission is autosomal dominant. |
| Id | 716111003 | 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 | 2491 |
SNOMED CT to ICD-10 extended map | Target | Q87.8 | Rule | TRUE | Advice | ALWAYS Q87.8 | Correlation | SNOMED CT source code to target map code correlation not specified |
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