46,XX-geslachtsontwikkelingsstoornis	congenitale atresie van anus	malformatiesyndroom met betrokkenheid van meerdere systemen	pseudohermafroditisme
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syndroom van 46,XX-geslachtsontwikkelingsstoornis met anorectale anomalieën (aandoening)
	syndroom van 46,XX-geslachtsontwikkelingsstoornis met anorectale anomalieën
	syndroom van vrouwelijk pseudohermafroditisme met anorectale afwijkingen
	46,XX disorder of sex development with anorectal anomalies syndrome
	Female pseudohermaphroditism with anorectal anomalies syndrome
	A rare developmental defect during embryogenesis syndrome, with characteristics of normal female karyotype, normal ovaries, male or ambiguous genitalia, urinary tract malformations (ranging from bilateral renal agenesis to mild unilateral hydronephrosis), mullerian duct anomalies (for example complete absence of the uterus and vagina, bicornuate uterus) and imperforate anus.

Id	733622000
Status	Primitive

Associated morphology	morfologische afwijking
Finding site	structuur van geslachtsorgaan
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Associated morphology	atresie
Finding site	structuur van anus
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

DHD Diagnosis thesaurus reference set

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	Q56.2
Term	Vrouwelijk pseudohermafroditisme, niet elders geclassificeerd

Target	Q42.3
Term	Congenitale afwezigheid, atresie en stenose van anus zonder fistel

SNOMED CT to Orphanet simple map

2973

SNOMED CT to ICD-10 extended map

Target	Q56.2
Rule	TRUE
Advice	ALWAYS Q56.2 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified

Target	Q42.3
Rule	TRUE
Advice	ALWAYS Q42.3
Correlation	SNOMED CT source code to target map code correlation not specified