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Terminology chevron_right Concepts chevron_right 719398004

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Language with ID “758549e9-3386-5089-9704-245ffe905a33” doesn’t exist. Perhaps it was deleted?

Component

719398004

The component that hold information about this concept.

Fully Specified Name (FSN)

Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)

Shortest Term

Froster iskenius waterson syndrome

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

Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)

SCTID: 719398004, Primitive, Active

719398004|Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)|

en Malignant hyperthermia with arthrogryposis and torticollis syndrome
en Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)
en Froster iskenius waterson syndrome

Expression

719398004 |Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)|
 <<< 65094009 |Multiple malformation syndrome with facial defects as major feature (disorder)| + 
70070008 |Torticollis (disorder)| + 
85995004 |Autosomal recessive hereditary disorder (disorder)| + 
405501007 |Malignant hyperthermia (disorder)| + 
28204005 |Inherited arthrogryposis (disorder)| + 
89886004 |Congenital anomaly of skeletal muscle (disorder)| + 
40052002 |Congenital anomaly of neck (disorder)| + 
673791000119108 |Congenital deformity of soft tissue (disorder)| + 
205402004 |Arthrogryposis multiplex congenita (disorder)| + 
1344689004 |Congenital deformity of musculoskeletal system (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 49755003 |Morphologically abnormal structure (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 89545001 |Face structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 57048009 |Contracture (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 81727001 |Skeletal muscle structure of neck (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 363713009 |Has interpretation (attribute)| = 281302008 |Above reference range (qualifier value)|,
363714003 |Interprets (attribute)| = 386725007 |Body temperature (observable entity)| }
        { 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)| = 785818007 |Structure of joint region (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 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
3316212016 - Malignant hyperthermia with arthrogryposis and torticollis syndrome (en) View
3316212016	en	Synonym (core metadata concept)	Malignant hyperthermia with arthrogryposis and torticollis syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3316211011 - Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder) (en) View
3316211011	en	Fully specified name (core metadata concept)	Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3316213014 - Froster Iskenius Waterson syndrome (en) View
3316213014	en	Synonym (core metadata concept)	Froster Iskenius Waterson syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (6626018024) - 719398004 -> 363212003 (116680003) View
116680003 \|Is a (attribute)\|	363212003 \|Hereditary disorder of musculoskeletal system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6626027020) - 719398004 -> 57048009 (116676008) View
116676008 \|Associated morphology (attribute)\|	57048009 \|Contracture (morphologic abnormality)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16198017027) - 719398004 -> 773190007 (363698007) View
363698007 \|Finding site (attribute)\|	773190007 \|Joint structure of multiple body sites (body structure)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16176215026) - 719398004 -> 1344689004 (116680003) View
116680003 \|Is a (attribute)\|	1344689004 \|Congenital deformity of musculoskeletal system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15025117027) - 719398004 -> 416113008 (116680003) View
116680003 \|Is a (attribute)\|	416113008 \|Febrile disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (15507959025) - 719398004 -> 205402004 (116680003) View
116680003 \|Is a (attribute)\|	205402004 \|Arthrogryposis multiplex congenita (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15054769020) - 719398004 -> 673791000119108 (116680003) View
116680003 \|Is a (attribute)\|	673791000119108 \|Congenital deformity of soft tissue (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6626022025) - 719398004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6626024029) - 719398004 -> 57048009 (116676008) View
116676008 \|Associated morphology (attribute)\|	57048009 \|Contracture (morphologic abnormality)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6626025028) - 719398004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6628833023) - 719398004 -> 57048009 (116676008) View
116676008 \|Associated morphology (attribute)\|	57048009 \|Contracture (morphologic abnormality)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6631015028) - 719398004 -> 39352004 (363698007) View
363698007 \|Finding site (attribute)\|	39352004 \|Joint structure (body structure)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10517327028) - 719398004 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11512020020) - 719398004 -> 785818007 (363698007) View
363698007 \|Finding site (attribute)\|	785818007 \|Structure of joint region (body structure)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11512021024) - 719398004 -> 364564000 (363714003) View
363714003 \|Interprets (attribute)\|	364564000 \|Range of joint movement (observable entity)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11512022028) - 719398004 -> 1250004 (363713009) View
363713009 \|Has interpretation (attribute)\|	1250004 \|Decreased (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11512023022) - 719398004 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6626017025) - 719398004 -> 111246005 (116680003) View
116680003 \|Is a (attribute)\|	111246005 \|Arthrogryposis (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6626028026) - 719398004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6626029023) - 719398004 -> 81727001 (363698007) View
363698007 \|Finding site (attribute)\|	81727001 \|Skeletal muscle structure of neck (body structure)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6628835027) - 719398004 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6628836026) - 719398004 -> 89545001 (363698007) View
363698007 \|Finding site (attribute)\|	89545001 \|Face structure (body structure)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10517324024) - 719398004 -> 57048009 (116676008) View
116676008 \|Associated morphology (attribute)\|	57048009 \|Contracture (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10517325020) - 719398004 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10517329025) - 719398004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10517330024) - 719398004 -> 28204005 (116680003) View
116680003 \|Is a (attribute)\|	28204005 \|Inherited arthrogryposis (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10517332027) - 719398004 -> 89886004 (116680003) View
116680003 \|Is a (attribute)\|	89886004 \|Congenital anomaly of skeletal muscle (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10517334026) - 719398004 -> 40052002 (116680003) View
116680003 \|Is a (attribute)\|	40052002 \|Congenital anomaly of neck (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10517336029) - 719398004 -> 81727001 (363698007) View
363698007 \|Finding site (attribute)\|	81727001 \|Skeletal muscle structure of neck (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10596066028) - 719398004 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10596067021) - 719398004 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10596068027) - 719398004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10596069024) - 719398004 -> 89545001 (363698007) View
363698007 \|Finding site (attribute)\|	89545001 \|Face structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6626020022) - 719398004 -> 386725007 (363714003) View
363714003 \|Interprets (attribute)\|	386725007 \|Body temperature (observable entity)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (9225239022) - 719398004 -> 281302008 (363713009) View
363713009 \|Has interpretation (attribute)\|	281302008 \|Above reference range (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9225240024) - 719398004 -> 386725007 (363714003) View
363714003 \|Interprets (attribute)\|	386725007 \|Body temperature (observable entity)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6626014021) - 719398004 -> 65094009 (116680003) View
116680003 \|Is a (attribute)\|	65094009 \|Multiple malformation syndrome with facial defects as major feature (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6626015022) - 719398004 -> 70070008 (116680003) View
116680003 \|Is a (attribute)\|	70070008 \|Torticollis (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6626016023) - 719398004 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6626019027) - 719398004 -> 405501007 (116680003) View
116680003 \|Is a (attribute)\|	405501007 \|Malignant hyperthermia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1344689004 View
1344689004	Congenital deformity of musculoskeletal system (disorder)	Congenital deformity of musculoskeletal system	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
405501007 View
405501007	Malignant hyperthermia (disorder)	Malignant hyperthermia	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
205402004 View
205402004	Arthrogryposis multiplex congenita (disorder)	Multiple congenital arthrogryposis	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
673791000119108 View
673791000119108	Congenital deformity of soft tissue (disorder)	Congenital deformity of soft tissue	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
70070008 View
70070008	Torticollis (disorder)	Vẹo cổ	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
28204005 View
28204005	Inherited arthrogryposis (disorder)	Inherited arthrogryposis	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
40052002 View
40052002	Congenital anomaly of neck (disorder)	Congenital anomaly of neck	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
65094009 View
65094009	Multiple malformation syndrome with facial defects as major feature (disorder)	Multiple malformation syndrome with facial defects as major feature	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
85995004 View
85995004	Autosomal recessive hereditary disorder (disorder)	Hereditary disorder trait, nos	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
89886004 View
89886004	Congenital anomaly of skeletal muscle (disorder)	Congenital anomaly of skeletal muscle	900000000000073002 \|Sufficiently defined by necessary conditions 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 (1448fda8-6f00-5250-9854-1c684f30efb8) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q87.0	TRUE	ALWAYS Q87.0 \| 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)\|
ExtendedMap object (a699b40d-3082-5e1d-9aa8-19cc788f0dda) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	G71.8	TRUE	ALWAYS G71.8 \| 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)\|

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