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 anomaly\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 anomaly\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 anomaly\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 anomaly\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, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

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

157737011 Swyer syndrome en Synonym Active Case sensitive SNOMED CT core

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

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Pure gonadal dysgenesis 46,XY	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
Pure gonadal dysgenesis 46,XY	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
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	Is a	Pure gonadal dysgenesis	true	Inferred relationship	Some
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 abnormality	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	Developmental abnormality	false	Inferred relationship	Some	2
Pure gonadal dysgenesis 46,XY	Associated morphology	Developmental abnormality	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	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

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

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

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