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Terminology chevron_right Concepts chevron_right 205402004

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Component

205402004

The component that hold information about this concept.

Fully Specified Name (FSN)

Arthrogryposis multiplex congenita (disorder)

Shortest Term

Multiple congenital arthrogryposis

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

Arthrogryposis multiplex congenita (disorder)

SCTID: 205402004, Primitive, Active

205402004|Arthrogryposis multiplex congenita (disorder)|

en Amc - arthrogryposis multiplex congenita
en Multiple congenital arthrogryposis
en Arthrogryposis multiplex congenita
en Arthrogryposis multiplex congenita (disorder)

Expression

205402004 |Arthrogryposis multiplex congenita (disorder)|
 <<< 111246005 |Arthrogryposis (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 57048009 |Contracture (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 785818007 |Structure of joint region (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 363713009 |Has interpretation (attribute)| = 1250004 |Decreased (qualifier value)|,
363714003 |Interprets (attribute)| = 364564000 |Range of joint movement (observable entity)| }
        { 116676008 |Associated morphology (attribute)| = 57048009 |Contracture (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 773190007 |Joint structure of multiple body sites (body structure)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
5171545016 - AMC - arthrogryposis multiplex congenita (en) View
5171545016	en	Synonym (core metadata concept)	AMC - arthrogryposis multiplex congenita	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
5171544017 - Multiple congenital arthrogryposis (en) View
5171544017	en	Synonym (core metadata concept)	Multiple congenital arthrogryposis	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
314950010 - Arthrogryposis multiplex congenita (en) View
314950010	en	Synonym (core metadata concept)	Arthrogryposis multiplex congenita	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
2752036018 - Arthrogryposis multiplex congenita (disorder) (en) View
2752036018	en	Fully specified name (core metadata concept)	Arthrogryposis multiplex congenita (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
590762012 - Arthrogryposis multiplex congenita (en) View
590762012	en	Fully specified name (core metadata concept)	Arthrogryposis multiplex congenita	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	False

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (16198082029) - 205402004 -> 773190007 (363698007) View
363698007 \|Finding site (attribute)\|	773190007 \|Joint structure of multiple body sites (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16198083023) - 205402004 -> 57048009 (116676008) View
116676008 \|Associated morphology (attribute)\|	57048009 \|Contracture (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15507900022) - 205402004 -> 111246005 (116680003) View
116680003 \|Is a (attribute)\|	111246005 \|Arthrogryposis (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15507901021) - 205402004 -> 364564000 (363714003) View
363714003 \|Interprets (attribute)\|	364564000 \|Range of joint movement (observable entity)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15507902025) - 205402004 -> 1250004 (363713009) View
363713009 \|Has interpretation (attribute)\|	1250004 \|Decreased (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15507903024) - 205402004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15507904029) - 205402004 -> 785818007 (363698007) View
363698007 \|Finding site (attribute)\|	785818007 \|Structure of joint region (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15507905028) - 205402004 -> 57048009 (116676008) View
116676008 \|Associated morphology (attribute)\|	57048009 \|Contracture (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15507906027) - 205402004 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
111246005 View
111246005	Arthrogryposis (disorder)	Arthrogryposis	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1351836007 View
1351836007	Alkuraya kucinskas syndrome (disorder)	Alkuraya kucinskas syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1300190004 View
1300190004	Congenital pontocerebellar hypoplasia type 12 (disorder)	Pch12 - pontocerebellar hypoplasia type 12	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1259119003 View
1259119003	Antenatal multi-minicore disease with arthrogryposis multiplex congenita (disorder)	Antenatal multi-minicore disease with arthrogryposis multiplex congenita	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
1251451005 View
1251451005	Myosin binding protein c1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome (disorder)	Mybpc1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1230344000 View
1230344000	Microphthalmia, microtia, fetal akinesia syndrome (disorder)	Thomas jewett raines syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1172689007 View
1172689007	Prenatal-onset spinal muscular atrophy with congenital bone fractures (disorder)	Prenatal-onset spinal muscular atrophy with congenital bone fractures	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
773306002 View
773306002	Congenital lethal myopathy compton north type (disorder)	Congenital lethal myopathy compton north type	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
773396009 View
773396009	Distal arthrogryposis type 5d (disorder)	Distal arthrogryposis type 5d	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
764812008 View
764812008	Autosomal recessive myogenic arthrogryposis multiplex congenita (disorder)	Syne1-related arthrogryposis multiplex congenita	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
766931003 View
766931003	Hypomyelination neuropathy arthrogryposis syndrome (disorder)	Hypomyelination neuropathy arthrogryposis syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
726620005 View
726620005	Arthrogryposis hyperkeratosis syndrome lethal form (disorder)	Johnston aarons schelley syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
719398004 View
719398004	Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)	Froster iskenius waterson syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
719836007 View
719836007	X-linked distal arthrogryposis multiplex congenita (disorder)	X-linked spinal muscular atrophy type 2	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
719845008 View
719845008	Van den ende-gupta syndrome (disorder)	Marden walker like syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
720463009 View
720463009	Adducted thumbs and arthrogryposis syndrome christian type (disorder)	Adducted thumbs and arthrogryposis syndrome christian type	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
720514008 View
720514008	Arthrogryposis multiplex congenita and whistling face syndrome (disorder)	Illum syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
722456001 View
722456001	Intellectual disability, developmental delay, contracture syndrome (disorder)	Wieacker wolff syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
715316005 View
715316005	Neurogenic arthrogryposis multiplex congenita (disorder)	Neurogenic arthrogryposis multiplex congenita	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
715565004 View
715565004	Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder)	Vuopala disease	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
702447002 View
702447002	Arthrogryposis-like syndrome (disorder)	Kuskokwim syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
449824004 View
449824004	Marden walker syndrome (disorder)	Marden walker syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
401138005 View
401138005	Pena-shokeir syndrome type i (disorder)	Pena-shokeir phenotype	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
240061000 View
240061000	Congenital muscular dystrophy with arthrogryposis multiplex congenita (disorder)	Congenital muscular dystrophy with arthrogryposis multiplex congenita	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

Reference Set help	Map Target help	Map Rule help	Map Advice help	Correlation help	Map Category help
ExtendedMap object (e8223735-a17b-5921-892a-a3ad8afe2481) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q74.3	TRUE	ALWAYS Q74.3 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION	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)\|

Terminology chevron_right Concepts chevron_right 205402004

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