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Terminology chevron_right Concepts chevron_right 29145002

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Component

29145002

The component that hold information about this concept.

Fully Specified Name (FSN)

Schwartz-jampel syndrome (disorder)

Shortest Term

Burton 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

Schwartz-jampel syndrome (disorder)

SCTID: 29145002, Primitive, Active

29145002|Schwartz-jampel syndrome (disorder)|

en Aberfeld syndrome
en Burton skeletal dysplasia
en Burton syndrome
en Catel hempel syndrome
en Chondrodystrophic myotonia
en Myotonia chondrodystrophica
en Osteochondromuscular dystrophy
en Schwartz-jampel syndrome (disorder)
en Schwartz-jampel syndrome

Expression

29145002 |Schwartz-jampel syndrome (disorder)|
 <<< 257277002 |Combined disorder of muscle and peripheral nerve (disorder)| + 
82354003 |Multiple system malformation syndrome (disorder)| + 
363212003 |Hereditary disorder of musculoskeletal system (disorder)| + 
363070008 |Developmental hereditary disorder (disorder)| + 
278713008 |Spondyloepiphyseal dysplasia congenita group (disorder)| + 
85995004 |Autosomal recessive hereditary disorder (disorder)| + 
726051002 |Myotonia congenita (disorder)| + 
363235000 |Hereditary disorder of nervous system (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 25723000 |Dysplasia (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 272673000 |Bone structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 363698007 |Finding site (attribute)| = 127954009 |Skeletal muscle structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 363698007 |Finding site (attribute)| = 3058005 |Peripheral nervous system structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
3799828019 - Aberfeld syndrome (en) View
3799828019	en	Synonym (core metadata concept)	Aberfeld syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
3799829010 - Burton skeletal dysplasia (en) View
3799829010	en	Synonym (core metadata concept)	Burton skeletal dysplasia	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
3799826015 - Burton syndrome (en) View
3799826015	en	Synonym (core metadata concept)	Burton syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
3799827012 - Catel Hempel syndrome (en) View
3799827012	en	Synonym (core metadata concept)	Catel Hempel syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
1226300015 - Chondrodystrophic myotonia (en) View
1226300015	en	Synonym (core metadata concept)	Chondrodystrophic myotonia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
48772015 - Myotonia chondrodystrophica (en) View
48772015	en	Synonym (core metadata concept)	Myotonia chondrodystrophica	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
48773013 - Osteochondromuscular dystrophy (en) View
48773013	en	Synonym (core metadata concept)	Osteochondromuscular dystrophy	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
760006014 - Schwartz-Jampel syndrome (disorder) (en) View
760006014	en	Fully specified name (core metadata concept)	Schwartz-Jampel syndrome (disorder)	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True
48771010 - Schwartz-Jampel syndrome (en) View
48771010	en	Synonym (core metadata concept)	Schwartz-Jampel syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (13068961022) - 29145002 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (195417025) - 29145002 -> 64162006 (116680003) View
116680003 \|Is a (attribute)\|	64162006 \|Multiple malformation syndrome with unusual brain and/or neuromuscular findings (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2730863025) - 29145002 -> 56246009 (116676008) View
116676008 \|Associated morphology (attribute)\|	56246009 \|Hypertrophy (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10529451029) - 29145002 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (12069547027) - 29145002 -> 272673000 (363698007) View
363698007 \|Finding site (attribute)\|	272673000 \|Bone structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12069548021) - 29145002 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12069549029) - 29145002 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12069550029) - 29145002 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12069551025) - 29145002 -> 726051002 (116680003) View
116680003 \|Is a (attribute)\|	726051002 \|Myotonia congenita (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12069552021) - 29145002 -> 363235000 (116680003) View
116680003 \|Is a (attribute)\|	363235000 \|Hereditary disorder of nervous system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12069553027) - 29145002 -> 257277002 (116680003) View
116680003 \|Is a (attribute)\|	257277002 \|Combined disorder of muscle and peripheral nerve (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12069554022) - 29145002 -> 127954009 (363698007) View
363698007 \|Finding site (attribute)\|	127954009 \|Skeletal muscle structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12069555023) - 29145002 -> 363212003 (116680003) View
116680003 \|Is a (attribute)\|	363212003 \|Hereditary disorder of musculoskeletal system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12069556024) - 29145002 -> 25723000 (116676008) View
116676008 \|Associated morphology (attribute)\|	25723000 \|Dysplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12069557026) - 29145002 -> 3058005 (363698007) View
363698007 \|Finding site (attribute)\|	3058005 \|Peripheral nervous system structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12069558020) - 29145002 -> 82354003 (116680003) View
116680003 \|Is a (attribute)\|	82354003 \|Multiple system malformation syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12069559028) - 29145002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12069560022) - 29145002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12069561021) - 29145002 -> 278713008 (116680003) View
116680003 \|Is a (attribute)\|	278713008 \|Spondyloepiphyseal dysplasia congenita group (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5019638023) - 29145002 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10529452020) - 29145002 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (745044021) - 29145002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2265742024) - 29145002 -> 112635002 (116676008) View
116676008 \|Associated morphology (attribute)\|	112635002 \|Congenital malformation (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4995136024) - 29145002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (745043026) - 29145002 -> 12738006 (363698007) View
363698007 \|Finding site (attribute)\|	12738006 \|Brain structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (745045022) - 29145002 -> 4720007 (116676008) View
116676008 \|Associated morphology (attribute)\|	4720007 \|Dystrophy (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (195416023) - 29145002 -> 312574001 (116680003) View
116680003 \|Is a (attribute)\|	312574001 \|Multisystem disorder s-t (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
363070008 View
363070008	Developmental hereditary disorder (disorder)	Developmental hereditary disorder	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
726051002 View
726051002	Myotonia congenita (disorder)	Myotonia congenita	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
257277002 View
257277002	Combined disorder of muscle and peripheral nerve (disorder)	Myoneural disorder	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
82354003 View
82354003	Multiple system malformation syndrome (disorder)	Multiple system malformation syndrome	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
278713008 View
278713008	Spondyloepiphyseal dysplasia congenita group (disorder)	Spondyloepiphyseal dysplasia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
363212003 View
363212003	Hereditary disorder of musculoskeletal system (disorder)	Hereditary disorder of musculoskeletal system	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
363235000 View
363235000	Hereditary disorder of nervous system (disorder)	Hereditary disorder of nervous system	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 (2c60afbf-e896-54b5-bf9b-bc276ef7e8c4) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q78.8	TRUE	ALWAYS Q78.8	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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