95218005: Pure gonadal dysgenesis 46,XY (disorder)

SNOMED CT Concept\Clinical finding\...

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

\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of reproductive system\Congenital malformation of genital organs\Gonadal dysgenesis\Pure gonadal dysgenesis\Pure gonadal dysgenesis 46,XY
\Disease\Disorder of body system\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Pure gonadal dysgenesis\Pure gonadal dysgenesis 46,XY
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Pure gonadal dysgenesis\Pure gonadal dysgenesis 46,XY
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Congenital malformation of genital organs\Gonadal dysgenesis\Pure gonadal dysgenesis\Pure gonadal dysgenesis 46,XY
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Pure gonadal dysgenesis\Pure gonadal dysgenesis 46,XY
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Pure gonadal dysgenesis\Pure gonadal dysgenesis 46,XY
\Disease\Congenital disease\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Pure gonadal dysgenesis\Pure gonadal dysgenesis 46,XY
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Pure gonadal dysgenesis\Pure gonadal dysgenesis 46,XY
\Disease\Developmental disorder\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Pure gonadal dysgenesis\Pure gonadal dysgenesis 46,XY
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Pure gonadal dysgenesis\Pure gonadal dysgenesis 46,XY

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

Descriptions:

Id Description Lang Type Status Case? Module

157736019 Pure gonadal dysgenesis 46,XY en Synonym Active Only initial character case insensitive SNOMED CT core module

157737011 Swyer syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

839325015 Pure gonadal dysgenesis 46,XY (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module

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	Existential restriction modifier
Pure gonadal dysgenesis 46,XY	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	2
Pure gonadal dysgenesis 46,XY	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	2
Pure gonadal dysgenesis 46,XY	Finding site	Gonadal structure	false	Inferred relationship	Existential restriction modifier	2
Pure gonadal dysgenesis 46,XY	Finding site	Entire genital organ	false	Inferred relationship	Existential restriction modifier	1
Pure gonadal dysgenesis 46,XY	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier
Pure gonadal dysgenesis 46,XY	Course	Multiple superficial injuries of lower leg	false	Inferred relationship	Existential restriction modifier
Pure gonadal dysgenesis 46,XY	Associated morphology	Congenital anomaly	false	Inferred relationship	Existential restriction modifier	1
Pure gonadal dysgenesis 46,XY	Finding site	Genital structure	false	Inferred relationship	Existential restriction modifier	4
Pure gonadal dysgenesis 46,XY	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier
Pure gonadal dysgenesis 46,XY	Finding site	Genital structure	false	Inferred relationship	Existential restriction modifier	1
Pure gonadal dysgenesis 46,XY	Associated morphology	Congenital malformation	false	Inferred relationship	Existential restriction modifier	1
Pure gonadal dysgenesis 46,XY	Associated morphology	Congenital developmental anomaly	false	Inferred relationship	Existential restriction modifier	2
Pure gonadal dysgenesis 46,XY	Finding site	Genital structure	false	Inferred relationship	Existential restriction modifier	1
Pure gonadal dysgenesis 46,XY	Finding site	Gonadal structure	false	Inferred relationship	Existential restriction modifier	2
Pure gonadal dysgenesis 46,XY	Associated morphology	Congenital developmental anomaly	false	Inferred relationship	Existential restriction modifier	2
Pure gonadal dysgenesis 46,XY	Associated morphology	Congenital malformation	false	Inferred relationship	Existential restriction modifier	1
Pure gonadal dysgenesis 46,XY	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	3
Pure gonadal dysgenesis 46,XY	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	3
Pure gonadal dysgenesis 46,XY	Finding site	Gonadal structure	false	Inferred relationship	Existential restriction modifier	3
Pure gonadal dysgenesis 46,XY	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Pure gonadal dysgenesis 46,XY	Finding site	Gonadal structure	true	Inferred relationship	Existential restriction modifier	1
Pure gonadal dysgenesis 46,XY	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	1
Pure gonadal dysgenesis 46,XY	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1

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

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
157736019	Pure gonadal dysgenesis 46,XY	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
157737011	Swyer syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
839325015	Pure gonadal dysgenesis 46,XY (disorder)	en	Fully specified name	Active	Only initial character case insensitive	SNOMED CT core module