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Terminology chevron_right Concepts chevron_right 83579008

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Component

83579008

The component that hold information about this concept.

Fully Specified Name (FSN)

Mixed gonadal dysgenesis (disorder)

Shortest Term

45, x/46, xy mosaicism

Definition Status

900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|

Specifies if the concept version is primitive or defined. Set to a descendant of 900000000000444006

Summary

Mixed gonadal dysgenesis (disorder)

SCTID: 83579008, Primitive, Active

83579008|Mixed gonadal dysgenesis (disorder)|

en 45, x/46, xy mosaicism
en Mixed gonadal dysgenesis
en Mixed gonadal dysgenesis (disorder)
en Mosaicism 45, x; 46, xy

Expression

83579008 |Mixed gonadal dysgenesis (disorder)|
 <<< 205681004 |Gonadal dysgenesis (disorder)| + 
17523003 |Genetic mosaic (finding)| + 
205706002 |Sex chromosome mosaicism (disorder)| + 
782964007 |Genetic disease (disorder)| + 
81438002 |Anomaly of chromosome y (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 8855009 |Mosaicism (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 5421003 |Sex chromosome y (cell structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 49755003 |Morphologically abnormal structure (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 43174007 |Gonadal structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 363714003 |Interprets (attribute)| = 405824009 |Genetic test (procedure)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
138615017 - 45, X/46, XY mosaicism (en) View
138615017	en	Synonym (core metadata concept)	45, X/46, XY mosaicism	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
138614018 - Mixed gonadal dysgenesis (en) View
138614018	en	Synonym (core metadata concept)	Mixed gonadal dysgenesis	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
825241017 - Mixed gonadal dysgenesis (disorder) (en) View
825241017	en	Fully specified name (core metadata concept)	Mixed gonadal dysgenesis (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
1234843014 - Mosaicism 45, X; 46, XY (en) View
1234843014	en	Synonym (core metadata concept)	Mosaicism 45, X; 46, XY	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (284023023) - 83579008 -> 205681004 (116680003) View
116680003 \|Is a (attribute)\|	205681004 \|Gonadal dysgenesis (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4982633024) - 83579008 -> 304041004 (363698007) View
363698007 \|Finding site (attribute)\|	304041004 \|Gonadal endocrine structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4997013025) - 83579008 -> 371118004 (116680003) View
116680003 \|Is a (attribute)\|	371118004 \|Congenital anomaly of endocrine gonad (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6045699020) - 83579008 -> 710010005 (116680003) View
116680003 \|Is a (attribute)\|	710010005 \|Mosaic turner syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6046992021) - 83579008 -> 107675007 (116676008) View
116676008 \|Associated morphology (attribute)\|	107675007 \|Chromosomal morphology (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6046993027) - 83579008 -> 72837006 (363698007) View
363698007 \|Finding site (attribute)\|	72837006 \|Sex chromosome x (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (15668689025) - 83579008 -> 17523003 (116680003) View
116680003 \|Is a (attribute)\|	17523003 \|Genetic mosaic (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15668690023) - 83579008 -> 205706002 (116680003) View
116680003 \|Is a (attribute)\|	205706002 \|Sex chromosome mosaicism (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15668691022) - 83579008 -> 782964007 (116680003) View
116680003 \|Is a (attribute)\|	782964007 \|Genetic disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15668692026) - 83579008 -> 81438002 (116680003) View
116680003 \|Is a (attribute)\|	81438002 \|Anomaly of chromosome y (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15668693020) - 83579008 -> 5421003 (363698007) View
363698007 \|Finding site (attribute)\|	5421003 \|Sex chromosome y (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15668694025) - 83579008 -> 8855009 (116676008) View
116676008 \|Associated morphology (attribute)\|	8855009 \|Mosaicism (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15668695029) - 83579008 -> 43174007 (363698007) View
363698007 \|Finding site (attribute)\|	43174007 \|Gonadal structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6464356020) - 83579008 -> 405824009 (363714003) View
363714003 \|Interprets (attribute)\|	405824009 \|Genetic test (procedure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4982631021) - 83579008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5008656020) - 83579008 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5008658021) - 83579008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5008659029) - 83579008 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5008660023) - 83579008 -> 304041004 (363698007) View
363698007 \|Finding site (attribute)\|	304041004 \|Gonadal endocrine structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10515128026) - 83579008 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (284024028) - 83579008 -> 38804009 (116680003) View
116680003 \|Is a (attribute)\|	38804009 \|Turner syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3525782021) - 83579008 -> 107675007 (116676008) View
116676008 \|Associated morphology (attribute)\|	107675007 \|Chromosomal morphology (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5011202022) - 83579008 -> 107673000 (116676008) View
116676008 \|Associated morphology (attribute)\|	107673000 \|Cellular and/or subcellular abnormality (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5011203028) - 83579008 -> 72837006 (363698007) View
363698007 \|Finding site (attribute)\|	72837006 \|Sex chromosome x (cell structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6046991025) - 83579008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (284025027) - 83579008 -> 4184009 (116680003) View
116680003 \|Is a (attribute)\|	4184009 \|Congenital anomaly of endocrine gland (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (883184027) - 83579008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2772276027) - 83579008 -> 111333002 (116680003) View
116680003 \|Is a (attribute)\|	111333002 \|Congenital anomaly of genital system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3171582024) - 83579008 -> 127345001 (116680003) View
116680003 \|Is a (attribute)\|	127345001 \|Disorder of endocrine gonad (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3525783027) - 83579008 -> 371519002 (116676008) View
116676008 \|Associated morphology (attribute)\|	371519002 \|Congenital developmental anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3549887020) - 83579008 -> 304041004 (363698007) View
363698007 \|Finding site (attribute)\|	304041004 \|Gonadal endocrine structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2602603022) - 83579008 -> 107675007 (116676008) View
116676008 \|Associated morphology (attribute)\|	107675007 \|Chromosomal morphology (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2789027024) - 83579008 -> 371519002 (116676008) View
116676008 \|Associated morphology (attribute)\|	371519002 \|Congenital developmental anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2964972023) - 83579008 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3052281025) - 83579008 -> 304041004 (363698007) View
363698007 \|Finding site (attribute)\|	304041004 \|Gonadal endocrine structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3093934024) - 83579008 -> 72837006 (363698007) View
363698007 \|Finding site (attribute)\|	72837006 \|Sex chromosome x (cell structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3093935020) - 83579008 -> 72837006 (363698007) View
363698007 \|Finding site (attribute)\|	72837006 \|Sex chromosome x (cell structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (883185026) - 83579008 -> 127944005 (363698007) View
363698007 \|Finding site (attribute)\|	127944005 \|Entire endocrine gonad (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2789026026) - 83579008 -> 43174007 (363698007) View
363698007 \|Finding site (attribute)\|	43174007 \|Gonadal structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2964973029) - 83579008 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2979776025) - 83579008 -> 72837006 (363698007) View
363698007 \|Finding site (attribute)\|	72837006 \|Sex chromosome x (cell structure)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2979777023) - 83579008 -> 72837006 (363698007) View
363698007 \|Finding site (attribute)\|	72837006 \|Sex chromosome x (cell structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (883183022) - 83579008 -> 128181006 (363698007) View
363698007 \|Finding site (attribute)\|	128181006 \|Entire genital organ (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2899739020) - 83579008 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2899740022) - 83579008 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2914894028) - 83579008 -> 72837006 (363698007) View
363698007 \|Finding site (attribute)\|	72837006 \|Sex chromosome x (cell structure)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2914895027) - 83579008 -> 72837006 (363698007) View
363698007 \|Finding site (attribute)\|	72837006 \|Sex chromosome x (cell structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2806490020) - 83579008 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2806491024) - 83579008 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2822000029) - 83579008 -> 72837006 (363698007) View
363698007 \|Finding site (attribute)\|	72837006 \|Sex chromosome x (cell structure)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2822001025) - 83579008 -> 72837006 (363698007) View
363698007 \|Finding site (attribute)\|	72837006 \|Sex chromosome x (cell structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (883179022) - 83579008 -> 41669009 (116676008) View
116676008 \|Associated morphology (attribute)\|	41669009 \|Alteration of chromosome structure (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (883182028) - 83579008 -> 40689003 (363698007) View
363698007 \|Finding site (attribute)\|	40689003 \|Testis structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2657420026) - 83579008 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2657421027) - 83579008 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2675061020) - 83579008 -> 72837006 (363698007) View
363698007 \|Finding site (attribute)\|	72837006 \|Sex chromosome x (cell structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2675062029) - 83579008 -> 72837006 (363698007) View
363698007 \|Finding site (attribute)\|	72837006 \|Sex chromosome x (cell structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2697652026) - 83579008 -> 55631001 (116680003) View
116680003 \|Is a (attribute)\|	55631001 \|Congenital anomaly of testis (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (883178025) - 83579008 -> 72837006 (363698007) View
363698007 \|Finding site (attribute)\|	72837006 \|Sex chromosome x (cell structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1780403021) - 83579008 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2045092021) - 83579008 -> 111333002 (116680003) View
116680003 \|Is a (attribute)\|	111333002 \|Congenital anomaly of genital system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2045093027) - 83579008 -> 126763008 (116680003) View
116680003 \|Is a (attribute)\|	126763008 \|Congenital anomaly of perineum (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2463787023) - 83579008 -> 64910008 (116680003) View
116680003 \|Is a (attribute)\|	64910008 \|Disorder of testis (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2525262022) - 83579008 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2525973022) - 83579008 -> 72837006 (363698007) View
363698007 \|Finding site (attribute)\|	72837006 \|Sex chromosome x (cell structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2045094022) - 83579008 -> 371118004 (116680003) View
116680003 \|Is a (attribute)\|	371118004 \|Congenital anomaly of endocrine gonad (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2490101022) - 83579008 -> 15497006 (363698007) View
363698007 \|Finding site (attribute)\|	15497006 \|Ovarian structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (284026026) - 83579008 -> 41859001 (116680003) View
116680003 \|Is a (attribute)\|	41859001 \|Congenital anomaly of genital organ (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1780404026) - 83579008 -> 21514008 (363698007) View
363698007 \|Finding site (attribute)\|	21514008 \|Structure of genitourinary system (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (883180020) - 83579008 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
205706002 View
205706002	Sex chromosome mosaicism (disorder)	Sex chromosome mosaicism	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
782964007 View
782964007	Genetic disease (disorder)	Genetic disease	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
81438002 View
81438002	Anomaly of chromosome y (disorder)	Anomaly of chromosome y	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
205681004 View
205681004	Gonadal dysgenesis (disorder)	Gonadal dysgenesis	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
17523003 View
17523003	Genetic mosaic (finding)	Genetic mosaic	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active

Reference Set help	Map Target help	Map Rule help	Map Advice help	Correlation help	Map Category help
ExtendedMap object (cf474662-ff7f-539e-92d9-b83ebee34234) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q96.3	TRUE	ALWAYS Q96.3	447561005 \|Snomed ct source code to target map code correlation not specified (foundation metadata concept)\|	447637006 \|Map source concept is properly classified (foundation metadata concept)\|

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