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Terminology chevron_right Concepts chevron_right 240067001

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Component

240067001

The component that hold information about this concept.

Fully Specified Name (FSN)

Autosomal dominant muscular dystrophy with limb girdle distribution (disorder)

Shortest Term

Autosomal dominant muscular dystrophy with limb girdle distribution

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

Autosomal dominant muscular dystrophy with limb girdle distribution (disorder)

SCTID: 240067001, Primitive, Active

240067001|Autosomal dominant muscular dystrophy with limb girdle distribution (disorder)|

en Autosomal dominant muscular dystrophy with limb girdle distribution
en Autosomal dominant muscular dystrophy with limb girdle distribution (disorder)

Expression

240067001 |Autosomal dominant muscular dystrophy with limb girdle distribution (disorder)|
 <<< 240046001 |Muscular dystrophy with predominantly proximal limb girdle distribution (disorder)| + 
11164009 |Autosomal dominant hereditary disorder (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 4720007 |Dystrophy (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 127954009 |Skeletal muscle structure (body structure)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 263502005 |Clinical course (attribute)| = 255314001 |Progressive (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
359666010 - Autosomal dominant muscular dystrophy with limb girdle distribution (en) View
359666010	en	Synonym (core metadata concept)	Autosomal dominant muscular dystrophy with limb girdle distribution	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
629159018 - Autosomal dominant muscular dystrophy with limb girdle distribution (disorder) (en) View
629159018	en	Fully specified name (core metadata concept)	Autosomal dominant muscular dystrophy with limb girdle distribution (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (9662702023) - 240067001 -> 363212003 (116680003) View
116680003 \|Is a (attribute)\|	363212003 \|Hereditary disorder of musculoskeletal system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11283714024) - 240067001 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11577792022) - 240067001 -> 255314001 (263502005) View
263502005 \|Clinical course (attribute)\|	255314001 \|Progressive (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (56843023) - 240067001 -> 111501005 (116680003) View
116680003 \|Is a (attribute)\|	111501005 \|Congenital hereditary muscular dystrophy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4976369027) - 240067001 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4976370026) - 240067001 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4986805023) - 240067001 -> 127954009 (363698007) View
363698007 \|Finding site (attribute)\|	127954009 \|Skeletal muscle structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6644302028) - 240067001 -> 11164009 (116680003) View
116680003 \|Is a (attribute)\|	11164009 \|Autosomal dominant hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (1731610025) - 240067001 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1731611026) - 240067001 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3094097023) - 240067001 -> 127954009 (363698007) View
363698007 \|Finding site (attribute)\|	127954009 \|Skeletal muscle structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2980018027) - 240067001 -> 127954009 (363698007) View
363698007 \|Finding site (attribute)\|	127954009 \|Skeletal muscle structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2980019024) - 240067001 -> 127954009 (363698007) View
363698007 \|Finding site (attribute)\|	127954009 \|Skeletal muscle structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3094096025) - 240067001 -> 127954009 (363698007) View
363698007 \|Finding site (attribute)\|	127954009 \|Skeletal muscle structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (2915140025) - 240067001 -> 127954009 (363698007) View
363698007 \|Finding site (attribute)\|	127954009 \|Skeletal muscle structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2915141026) - 240067001 -> 127954009 (363698007) View
363698007 \|Finding site (attribute)\|	127954009 \|Skeletal muscle structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2822247027) - 240067001 -> 127954009 (363698007) View
363698007 \|Finding site (attribute)\|	127954009 \|Skeletal muscle structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2822248021) - 240067001 -> 127954009 (363698007) View
363698007 \|Finding site (attribute)\|	127954009 \|Skeletal muscle structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2675333020) - 240067001 -> 127954009 (363698007) View
363698007 \|Finding site (attribute)\|	127954009 \|Skeletal muscle structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2675334025) - 240067001 -> 127954009 (363698007) View
363698007 \|Finding site (attribute)\|	127954009 \|Skeletal muscle structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (535454028) - 240067001 -> 127954009 (363698007) View
363698007 \|Finding site (attribute)\|	127954009 \|Skeletal muscle structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2527014024) - 240067001 -> 127954009 (363698007) View
363698007 \|Finding site (attribute)\|	127954009 \|Skeletal muscle structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2477462026) - 240067001 -> 4720007 (116676008) View
116676008 \|Associated morphology (attribute)\|	4720007 \|Dystrophy (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (56844028) - 240067001 -> 240046001 (116680003) View
116680003 \|Is a (attribute)\|	240046001 \|Muscular dystrophy with predominantly proximal limb girdle distribution (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
11164009 View
11164009	Autosomal dominant hereditary disorder (disorder)	Ad - autosomal dominant	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
240046001 View
240046001	Muscular dystrophy with predominantly proximal limb girdle distribution (disorder)	Limb-girdle muscular dystrophy	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1279886003 View
1279886003	Calpain-3-related limb girdle muscular dystrophy d4 (disorder)	Limb girdle muscular dystrophy type d4	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
771334000 View
771334000	Autosomal dominant limb-girdle muscular dystrophy type 1h (disorder)	Autosomal dominant limb-girdle muscular dystrophy type 1h	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
719987009 View
719987009	Autosomal dominant limb girdle muscular dystrophy type 1d (disorder)	Autosomal dominant limb girdle muscular dystrophy type 1d	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
719988004 View
719988004	Autosomal dominant limb girdle muscular dystrophy type 1e (disorder)	Autosomal dominant limb girdle muscular dystrophy type 1e	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
719989007 View
719989007	Autosomal dominant limb girdle muscular dystrophy type 1f (disorder)	Autosomal dominant limb girdle muscular dystrophy type 1f	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
719990003 View
719990003	Autosomal dominant limb girdle muscular dystrophy type 1g (disorder)	Autosomal dominant limb girdle muscular dystrophy type 1g	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
240068006 View
240068006	Autosomal dominant muscular dystrophy with gene located at 5q31 (disorder)	Autosomal dominant muscular dystrophy with gene located at 5q31	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 (cd750764-ea73-56a4-84aa-b21559b5e39a) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	G71.0	TRUE	ALWAYS G71.0	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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