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733622000: 46,XX disorder of sex development with anorectal anomalies syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3472785011 46,XX disorder of sex development with anorectal anomalies syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3472786012 46,XX disorder of sex development with anorectal anomalies syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3472787015 Female pseudohermaphroditism with anorectal anomalies syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5403833015 A rare developmental defect during embryogenesis characterized by a normal female karyotype, normal ovaries, male or ambiguous genitalia, urinary tract malformations (ranging from bilateral renal agenesis to mild unilateral hydronephrosis), Mullerian duct anomalies (e.g. complete absence of the uterus and vagina, bicornuate uterus), and imperforate anus. Additional features may include tracheoesophageal fistula, radial aplasia, and malrotation of the gut. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403834014 A rare developmental defect during embryogenesis characterised by a normal female karyotype, normal ovaries, male or ambiguous genitalia, urinary tract malformations (ranging from bilateral renal agenesis to mild unilateral hydronephrosis), Mullerian duct anomalies (e.g. complete absence of the uterus and vagina, bicornuate uterus), and imperforate anus. Additional features may include tracheooesophageal fistula, radial aplasia, and malrotation of the gut. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
46,XX disorder of sex development with anorectal anomalies syndrome (disorder) Is a Pseudohermaphroditism true Inferred relationship Some
46,XX disorder of sex development with anorectal anomalies syndrome (disorder) Is a Multiple system malformation syndrome true Inferred relationship Some
46,XX disorder of sex development with anorectal anomalies syndrome (disorder) Is a Imperforate anus false Inferred relationship Some
46,XX disorder of sex development with anorectal anomalies syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
46,XX disorder of sex development with anorectal anomalies syndrome (disorder) Finding site Genital structure true Inferred relationship Some 2
46,XX disorder of sex development with anorectal anomalies syndrome (disorder) Occurrence Congenital false Inferred relationship Some 3
46,XX disorder of sex development with anorectal anomalies syndrome (disorder) Associated morphology Congenital atresia false Inferred relationship Some 2
46,XX disorder of sex development with anorectal anomalies syndrome (disorder) Finding site Anorectal structure false Inferred relationship Some 2
46,XX disorder of sex development with anorectal anomalies syndrome (disorder) Associated morphology Developmental anomaly false Inferred relationship Some 3
46,XX disorder of sex development with anorectal anomalies syndrome (disorder) Finding site Genital structure false Inferred relationship Some 3
46,XX disorder of sex development with anorectal anomalies syndrome (disorder) Finding site Anorectal structure false Inferred relationship Some 1
46,XX disorder of sex development with anorectal anomalies syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 2
46,XX disorder of sex development with anorectal anomalies syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
46,XX disorder of sex development with anorectal anomalies syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
46,XX disorder of sex development with anorectal anomalies syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
46,XX disorder of sex development with anorectal anomalies syndrome (disorder) Associated morphology Congenital atresia false Inferred relationship Some 1
46,XX disorder of sex development with anorectal anomalies syndrome (disorder) Is a 46,XX disorder of sex development true Inferred relationship Some
46,XX disorder of sex development with anorectal anomalies syndrome (disorder) Is a Anal atresia true Inferred relationship Some
46,XX disorder of sex development with anorectal anomalies syndrome (disorder) Finding site Anal structure true Inferred relationship Some 1
46,XX disorder of sex development with anorectal anomalies syndrome (disorder) Associated morphology Atresia (morphologic abnormality) true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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