46,XX disorder of sex development	Anal atresia	Multiple system malformation syndrome	Pseudohermaphroditism
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46,XX disorder of sex development with anorectal anomalies syndrome (disorder)
	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.
	syndroom van 46,XX-geslachtsontwikkelingsstoornis met anorectale anomalieën
	syndroom van vrouwelijk pseudohermafroditisme met anorectale afwijkingen

Id	733622000
Status	Primitive

Associated morphology	Morphologically abnormal structure
Finding site	Genital structure
Occurrence	Congenital
Pathological process	Pathological developmental process

Associated morphology	Congenital atresia
Finding site	Anal structure
Occurrence	Congenital
Pathological process	Pathological developmental process

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

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