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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.
Id733622000
StatusPrimitive
Associated morphologyatresie
Finding sitestructuur van anus
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ56.2
TermVrouwelijk pseudohermafroditisme, niet elders geclassificeerd
TargetQ42.3
TermCongenitale afwezigheid, atresie en stenose van anus zonder fistel
SNOMED CT to Orphanet simple map2973
SNOMED CT to ICD-10 extended map
TargetQ56.2
RuleTRUE
AdviceALWAYS Q56.2 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified
TargetQ42.3
RuleTRUE
AdviceALWAYS Q42.3
CorrelationSNOMED CT source code to target map code correlation not specified