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733622000: syndroom van 46,XX-geslachtsontwikkelingsstoornis met anorectale anomalieën (aandoening)


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
7172581000146116 syndroom van 46,XX-geslachtsontwikkelingsstoornis met anorectale anomalieën nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
7172591000146119 syndroom van 46,XX-geslachtsontwikkelingsstoornis met anorectale anomalieën (aandoening) nl Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
8269061000146113 syndroom van vrouwelijk pseudohermafroditisme met anorectale afwijkingen nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
3472788013 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. 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 anus imperforatus 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 atresie (afwijkende morfologie) 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 gebrekkige ontwikkeling (afwijkende morfologie) 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 atresie (afwijkende morfologie) 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

This concept is not in any reference sets

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