880094008: 46,XY disorder of sex development (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)\46,XY disorder of sex development
\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)\46,XY disorder of sex development
\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)\46,XY disorder of sex development
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Genital finding\Congenital malformation of genital organs (disorder)\46,XY disorder of sex development
\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)\46,XY disorder of sex development
\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)\46,XY disorder of sex development
\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)\46,XY disorder of sex development
\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)\46,XY disorder of sex development
\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)\46,XY disorder of sex development
\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)\46,XY disorder of sex development

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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4008247017 46,XY disorder of sex development en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

4008248010 46,XY disorder of sex development (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

4826361000052116 46,XY-rubbning av könsutveckling sv Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
46,XY disorder of sex development	Is a	Congenital malformation of genital organs (disorder)	true	Inferred relationship	Some
46,XY disorder of sex development	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
46,XY disorder of sex development	Finding site	Genital structure	true	Inferred relationship	Some	1
46,XY disorder of sex development	Occurrence	Congenital	true	Inferred relationship	Some	1
46,XY disorder of sex development	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
46,XY disorder of sex development, adrenal insufficiency due to cytochrome P450 family 11 subfamily A member 1 deficiency (disorder)	Is a	True	46,XY disorder of sex development	Inferred relationship	Some
46,XY ovotesticular disorder of sex development	Is a	True	46,XY disorder of sex development	Inferred relationship	Some
46,XY disorder of sex development due to environmental chemical exposure (disorder)	Is a	True	46,XY disorder of sex development	Inferred relationship	Some
46,XY disorder of sex development due to maternal ingestion of progestogen (disorder)	Is a	True	46,XY disorder of sex development	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
4008247017	46,XY disorder of sex development	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4008248010	46,XY disorder of sex development (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4826361000052116	46,XY-rubbning av könsutveckling	sv	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)