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95218005: Pure gonadal dysgenesis 46,XY (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\Gonadal dysgenesis\Pure gonadal dysgenesis\Pure gonadal dysgenesis 46,XY
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Congenital malformation of genital organs (disorder)\Gonadal dysgenesis\Pure gonadal dysgenesis\Pure gonadal dysgenesis 46,XY
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\Gonadal dysgenesis\Pure gonadal dysgenesis\Pure gonadal dysgenesis 46,XY
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Genital finding\Congenital malformation of genital organs (disorder)\Gonadal dysgenesis\Pure gonadal dysgenesis\Pure gonadal dysgenesis 46,XY
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Congenital malformation of genital organs (disorder)\Gonadal dysgenesis\Pure gonadal dysgenesis\Pure gonadal dysgenesis 46,XY
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\Gonadal dysgenesis\Pure gonadal dysgenesis\Pure gonadal dysgenesis 46,XY
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\Gonadal dysgenesis\Pure gonadal dysgenesis\Pure gonadal dysgenesis 46,XY
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Congenital malformation of genital organs (disorder)\Gonadal dysgenesis\Pure gonadal dysgenesis\Pure gonadal dysgenesis 46,XY
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\Gonadal dysgenesis\Pure gonadal dysgenesis\Pure gonadal dysgenesis 46,XY
\Finding of trunk structure\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\Gonadal dysgenesis\Pure gonadal dysgenesis\Pure gonadal dysgenesis 46,XY

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Pure gonadal dysgenesis 46,XY	Is a	Pure gonadal dysgenesis	true	Inferred relationship	Some
Pure gonadal dysgenesis 46,XY	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	2
Pure gonadal dysgenesis 46,XY	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	2
Pure gonadal dysgenesis 46,XY	Finding site	Gonadal structure	false	Inferred relationship	Some	2
Pure gonadal dysgenesis 46,XY	Finding site	Entire genital organ (body structure)	false	Inferred relationship	Some	1
Pure gonadal dysgenesis 46,XY	Occurrence	Congenital	false	Inferred relationship	Some
Pure gonadal dysgenesis 46,XY	Course	Multiple superficial injuries of lower leg	false	Inferred relationship	Some
Pure gonadal dysgenesis 46,XY	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	1
Pure gonadal dysgenesis 46,XY	Finding site	Genital structure	false	Inferred relationship	Some	4
Pure gonadal dysgenesis 46,XY	Occurrence	Congenital	false	Inferred relationship	Some
Pure gonadal dysgenesis 46,XY	Finding site	Genital structure	false	Inferred relationship	Some	1
Pure gonadal dysgenesis 46,XY	Associated morphology	Congenital malformation	false	Inferred relationship	Some	1
Pure gonadal dysgenesis 46,XY	Associated morphology	Congenital developmental anomaly	false	Inferred relationship	Some	2
Pure gonadal dysgenesis 46,XY	Finding site	Genital structure	false	Inferred relationship	Some	1
Pure gonadal dysgenesis 46,XY	Finding site	Gonadal structure	false	Inferred relationship	Some	2
Pure gonadal dysgenesis 46,XY	Associated morphology	Congenital developmental anomaly	false	Inferred relationship	Some	2
Pure gonadal dysgenesis 46,XY	Associated morphology	Congenital malformation	false	Inferred relationship	Some	1
Pure gonadal dysgenesis 46,XY	Occurrence	Congenital	false	Inferred relationship	Some	3
Pure gonadal dysgenesis 46,XY	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	3
Pure gonadal dysgenesis 46,XY	Finding site	Gonadal structure	false	Inferred relationship	Some	3
Pure gonadal dysgenesis 46,XY	Occurrence	Congenital	true	Inferred relationship	Some	1
Pure gonadal dysgenesis 46,XY	Finding site	Gonadal structure	true	Inferred relationship	Some	1
Pure gonadal dysgenesis 46,XY	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Pure gonadal dysgenesis 46,XY	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Chondrodysplasia with disorder of sex development syndrome (disorder)	Is a	True	Pure gonadal dysgenesis 46,XY	Inferred relationship	Some
XY type gonadal dysgenesis with associated anomalies syndrome (disorder)	Is a	True	Pure gonadal dysgenesis 46,XY	Inferred relationship	Some
Genitopalatocardiac syndrome	Is a	True	Pure gonadal dysgenesis 46,XY	Inferred relationship	Some

Reference Sets

Belgian subset for medical problems in patient health records

Description inactivation indicator reference set

GB English

US English

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Id	Description	Lang	Type	Status	Case?	Module
157736019	Pure gonadal dysgenesis 46,XY	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
157737011	Swyer syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
839325015	Pure gonadal dysgenesis 46,XY (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5706911000172113	dysgénésie gonadique pure 46,XY	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
4240081000172113	syndroom van Swyer	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
4240091000172111	XY-gonadale dysgenesie	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)