SNOMED CT

Last uploaded: January 16, 2025
Id http://purl.bioontology.org/ontology/SNOMEDCT/733622000
http://purl.bioontology.org/ontology/SNOMEDCT/733622000
Preferred Name

46,XX disorder of sex development with anorectal anomalies syndrome

Definitions
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.
Synonyms
46,XX disorder of sex development with anorectal anomalies syndrome (disorder)
Female pseudohermaphroditism with anorectal anomalies syndrome
Type http://www.w3.org/2002/07/owl#Class
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