83579008: Mixed gonadal dysgenesis (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\Gonadal dysgenesis\Mixed gonadal dysgenesis
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Disorder of reproductive system\Congenital malformation of genital organs\Gonadal dysgenesis\Mixed gonadal dysgenesis
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Mixed gonadal dysgenesis
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Genital finding\Congenital malformation of genital organs\Gonadal dysgenesis\Mixed gonadal dysgenesis
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Disease of the genitourinary system (disorder)\Disorder of reproductive system\Congenital malformation of genital organs\Gonadal dysgenesis\Mixed gonadal dysgenesis
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Disease of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Mixed gonadal dysgenesis
\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\Gonadal dysgenesis\Mixed gonadal dysgenesis
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Disorder of reproductive system\Congenital malformation of genital organs\Gonadal dysgenesis\Mixed gonadal dysgenesis
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Mixed gonadal dysgenesis
\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\Gonadal dysgenesis\Mixed gonadal dysgenesis

\Procedure related finding\Evaluation finding\Genetic finding\Genetic mosaic (finding)\Mixed gonadal dysgenesis

\Disease\Genetic disease\Mixed gonadal dysgenesis
\Disease\Disorder of foetus and/or newborn\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\Mixed gonadal dysgenesis
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Mixed gonadal dysgenesis
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of sex chromosome\Sex chromosome mosaicism (disorder)\Mixed gonadal dysgenesis
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of sex chromosome\Anomaly of chromosome Y\Mixed gonadal dysgenesis
\Disease\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of sex chromosome\Sex chromosome mosaicism (disorder)\Mixed gonadal dysgenesis
\Disease\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of sex chromosome\Anomaly of chromosome Y\Mixed gonadal dysgenesis
\Disease\Disorder of body system\Disease of the genitourinary system (disorder)\Disorder of reproductive system\Congenital malformation of genital organs\Gonadal dysgenesis\Mixed gonadal dysgenesis
\Disease\Disorder of body system\Disease of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Mixed gonadal dysgenesis
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Mixed gonadal dysgenesis
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Disorder of reproductive system\Congenital malformation of genital organs\Gonadal dysgenesis\Mixed gonadal dysgenesis
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Mixed gonadal dysgenesis
\Disease\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Mixed gonadal dysgenesis
\Disease\Developmental disorder (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\Mixed gonadal dysgenesis
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Mixed gonadal dysgenesis

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
Mixed gonadal dysgenesis	Is a	Gonadal dysgenesis	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Mixed gonadal dysgenesis	Is a	Turner syndrome (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Mixed gonadal dysgenesis	Is a	Congenital anomaly of endocrine gland	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Mixed gonadal dysgenesis	Is a	Congenital anomaly of genital organ	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Mixed gonadal dysgenesis	Finding site	Sex chromosome X (cell structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Mixed gonadal dysgenesis	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Mixed gonadal dysgenesis	Associated morphology	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Mixed gonadal dysgenesis	Finding site	Testis structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Mixed gonadal dysgenesis	Finding site	Entire genital organ (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Mixed gonadal dysgenesis	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Mixed gonadal dysgenesis	Finding site	Entire endocrine gonad (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Mixed gonadal dysgenesis	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Mixed gonadal dysgenesis	Finding site	Structure of genitourinary system (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Mixed gonadal dysgenesis	Is a	Congenital anomaly of genital system	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Mixed gonadal dysgenesis	Is a	Congenital anomaly of perineum	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Mixed gonadal dysgenesis	Is a	Congenital anomaly of endocrine gonad (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Mixed gonadal dysgenesis	Is a	Disease of testis	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Mixed gonadal dysgenesis	Finding site	Ovarian structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Mixed gonadal dysgenesis	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Mixed gonadal dysgenesis	Finding site	Sex chromosome X (cell structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Mixed gonadal dysgenesis	Associated morphology	Chromosomal morphology (morphologic abnormality)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Mixed gonadal dysgenesis	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Mixed gonadal dysgenesis	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Mixed gonadal dysgenesis	Finding site	Sex chromosome X (cell structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Mixed gonadal dysgenesis	Finding site	Sex chromosome X (cell structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Mixed gonadal dysgenesis	Is a	Congenital anomaly of testis	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Mixed gonadal dysgenesis	Is a	Congenital anomaly of genital system	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Mixed gonadal dysgenesis	Finding site	Gonadal structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Mixed gonadal dysgenesis	Associated morphology	anomalie congénitale du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Mixed gonadal dysgenesis	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Mixed gonadal dysgenesis	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Mixed gonadal dysgenesis	Finding site	Sex chromosome X (cell structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Mixed gonadal dysgenesis	Finding site	Sex chromosome X (cell structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Mixed gonadal dysgenesis	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Mixed gonadal dysgenesis	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Mixed gonadal dysgenesis	Finding site	Sex chromosome X (cell structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Mixed gonadal dysgenesis	Finding site	Sex chromosome X (cell structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Mixed gonadal dysgenesis	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Mixed gonadal dysgenesis	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Mixed gonadal dysgenesis	Finding site	Sex chromosome X (cell structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Mixed gonadal dysgenesis	Finding site	Sex chromosome X (cell structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Mixed gonadal dysgenesis	Finding site	Gonadal endocrine structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Mixed gonadal dysgenesis	Finding site	Sex chromosome X (cell structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Mixed gonadal dysgenesis	Finding site	Sex chromosome X (cell structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Mixed gonadal dysgenesis	Is a	Disorder of endocrine gonad	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Mixed gonadal dysgenesis	Associated morphology	Chromosomal morphology (morphologic abnormality)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Mixed gonadal dysgenesis	Associated morphology	anomalie congénitale du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Mixed gonadal dysgenesis	Finding site	Gonadal endocrine structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Mixed gonadal dysgenesis	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Mixed gonadal dysgenesis	Finding site	Gonadal endocrine structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Mixed gonadal dysgenesis	Is a	Congenital anomaly of endocrine gonad (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Mixed gonadal dysgenesis	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Mixed gonadal dysgenesis	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Mixed gonadal dysgenesis	Associated morphology	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Mixed gonadal dysgenesis	Finding site	Gonadal endocrine structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Mixed gonadal dysgenesis	Associated morphology	Cellular AND/OR subcellular abnormality	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Mixed gonadal dysgenesis	Finding site	Sex chromosome X (cell structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Mixed gonadal dysgenesis	Is a	Mosaic Turner syndrome	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Mixed gonadal dysgenesis	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Mixed gonadal dysgenesis	Associated morphology	Chromosomal morphology (morphologic abnormality)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Mixed gonadal dysgenesis	Finding site	Sex chromosome X (cell structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Mixed gonadal dysgenesis	Interprets	Genetic test (procedure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Mixed gonadal dysgenesis	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Mixed gonadal dysgenesis	Is a	Genetic mosaic (finding)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Mixed gonadal dysgenesis	Is a	Sex chromosome mosaicism (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Mixed gonadal dysgenesis	Is a	Genetic disease	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Mixed gonadal dysgenesis	Is a	Anomaly of chromosome Y	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Mixed gonadal dysgenesis	Finding site	Sex chromosome Y	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Mixed gonadal dysgenesis	Associated morphology	Mosaicism	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Mixed gonadal dysgenesis	Finding site	Gonadal structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
138614018	Mixed gonadal dysgenesis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
138615017	45, X/46, XY mosaicism	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
825241017	Mixed gonadal dysgenesis (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1234843014	Mosaicism 45, X; 46, XY	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
138614018	Mixed gonadal dysgenesis	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
138614018	Mixed gonadal dysgenesis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
138615017	45, X/46, XY mosaicism	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
138615017	45, X/46, XY mosaicism	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
825241017	Mixed gonadal dysgenesis (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
825241017	Mixed gonadal dysgenesis (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1234843014	Mosaicism 45, X; 46, XY	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3388051001000116	45,X/46,XY-Gonadendysgenesie, gemischte	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
4662791000241112	dysgénésie gonadique mixte	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
4662791000241112	dysgénésie gonadique mixte	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3388051001000116	45,X/46,XY-Gonadendysgenesie, gemischte	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module