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Terminology chevron_right Concepts chevron_right 240047005

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Component

240047005

The component that hold information about this concept.

Fully Specified Name (FSN)

X-linked muscular dystrophy with limb girdle distribution (disorder)

Shortest Term

X-linked muscular dystrophy with limb girdle distribution

Definition Status

900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|

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

Summary

X-linked muscular dystrophy with limb girdle distribution (disorder)

SCTID: 240047005, Defined, Active

240047005|X-linked muscular dystrophy with limb girdle distribution (disorder)|

en X-linked muscular dystrophy with limb girdle distribution (disorder)
en X-linked muscular dystrophy with limb girdle distribution

Expression

240047005 |X-linked muscular dystrophy with limb girdle distribution (disorder)|
 === 240046001 |Muscular dystrophy with predominantly proximal limb girdle distribution (disorder)| + 
111501005 |Congenital hereditary muscular dystrophy (disorder)| + 
128430005 |X-linked hereditary disease (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 4720007 |Dystrophy (morphologic abnormality)|,
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)| }
        { 263502005 |Clinical course (attribute)| = 255314001 |Progressive (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
629137015 - X-linked muscular dystrophy with limb girdle distribution (disorder) (en) View
629137015	en	Fully specified name (core metadata concept)	X-linked muscular dystrophy with limb girdle distribution (disorder)	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True
359641011 - X-linked muscular dystrophy with limb girdle distribution (en) View
359641011	en	Synonym (core metadata concept)	X-linked muscular dystrophy with limb girdle distribution	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (56815025) - 240047005 -> 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
Relationship (535426024) - 240047005 -> 127954009 (363698007) View
363698007 \|Finding site (attribute)\|	127954009 \|Skeletal muscle structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2533998026) - 240047005 -> 93153005 (116680003) View
116680003 \|Is a (attribute)\|	93153005 \|Limb-girdle muscular dystrophy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6122046026) - 240047005 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10527818023) - 240047005 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10527819026) - 240047005 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11283954029) - 240047005 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11283956027) - 240047005 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11577105021) - 240047005 -> 255314001 (263502005) View
263502005 \|Clinical course (attribute)\|	255314001 \|Progressive (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4978010023) - 240047005 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4978011022) - 240047005 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4988169021) - 240047005 -> 127954009 (363698007) View
363698007 \|Finding site (attribute)\|	127954009 \|Skeletal muscle structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (9238085022) - 240047005 -> 128430005 (116680003) View
116680003 \|Is a (attribute)\|	128430005 \|X-linked hereditary disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (1731571027) - 240047005 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1731572023) - 240047005 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3094354021) - 240047005 -> 127954009 (363698007) View
363698007 \|Finding site (attribute)\|	127954009 \|Skeletal muscle structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2980422028) - 240047005 -> 127954009 (363698007) View
363698007 \|Finding site (attribute)\|	127954009 \|Skeletal muscle structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2980423022) - 240047005 -> 127954009 (363698007) View
363698007 \|Finding site (attribute)\|	127954009 \|Skeletal muscle structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3094353026) - 240047005 -> 127954009 (363698007) View
363698007 \|Finding site (attribute)\|	127954009 \|Skeletal muscle structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (2915551021) - 240047005 -> 127954009 (363698007) View
363698007 \|Finding site (attribute)\|	127954009 \|Skeletal muscle structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2915552025) - 240047005 -> 127954009 (363698007) View
363698007 \|Finding site (attribute)\|	127954009 \|Skeletal muscle structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2822660026) - 240047005 -> 127954009 (363698007) View
363698007 \|Finding site (attribute)\|	127954009 \|Skeletal muscle structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2822661027) - 240047005 -> 127954009 (363698007) View
363698007 \|Finding site (attribute)\|	127954009 \|Skeletal muscle structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2675772022) - 240047005 -> 127954009 (363698007) View
363698007 \|Finding site (attribute)\|	127954009 \|Skeletal muscle structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2675773028) - 240047005 -> 127954009 (363698007) View
363698007 \|Finding site (attribute)\|	127954009 \|Skeletal muscle structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2528896022) - 240047005 -> 127954009 (363698007) View
363698007 \|Finding site (attribute)\|	127954009 \|Skeletal muscle structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2477443029) - 240047005 -> 4720007 (116676008) View
116676008 \|Associated morphology (attribute)\|	4720007 \|Dystrophy (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (56816029) - 240047005 -> 111501005 (116680003) View
116680003 \|Is a (attribute)\|	111501005 \|Congenital hereditary muscular dystrophy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
111501005 View
111501005	Congenital hereditary muscular dystrophy (disorder)	Benign congenital myopathy	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
128430005 View
128430005	X-linked hereditary disease (disorder)	X-linked hereditary disease	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
240048000 View
240048000	X-linked muscular dystrophy with abnormal dystrophin (disorder)	Meryon muscular dystrophy	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
240051007 View
240051007	X-linked limb girdle muscular dystrophy with normal dystrophin (disorder)	X-linked limb girdle muscular dystrophy with normal dystrophin	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 (baed9151-d2fe-5b3e-95af-84592d430a91) 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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