dock_to_right dock_to_right arrow_back

Terminology chevron_right Concepts chevron_right 240048000

Production

add

Component

240048000

The component that hold information about this concept.

Fully Specified Name (FSN)

X-linked muscular dystrophy with abnormal dystrophin (disorder)

Shortest Term

Meryon muscular dystrophy

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

X-linked muscular dystrophy with abnormal dystrophin (disorder)

SCTID: 240048000, Primitive, Active

240048000|X-linked muscular dystrophy with abnormal dystrophin (disorder)|

en Xp21-linked muscular dystrophy
en X-linked muscular dystrophy with abnormal dystrophin (disorder)
en Meryon muscular dystrophy
en X-linked muscular dystrophy with abnormal dystrophin

Expression

240048000 |X-linked muscular dystrophy with abnormal dystrophin (disorder)|
 <<< 240047005 |X-linked muscular dystrophy with limb girdle distribution (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
359644015 - Xp21-linked muscular dystrophy (en) View
359644015	en	Synonym (core metadata concept)	Xp21-linked muscular dystrophy	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
629138013 - X-linked muscular dystrophy with abnormal dystrophin (disorder) (en) View
629138013	en	Fully specified name (core metadata concept)	X-linked muscular dystrophy with abnormal dystrophin (disorder)	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True
359643014 - Meryon muscular dystrophy (en) View
359643014	en	Synonym (core metadata concept)	Meryon muscular dystrophy	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
359642016 - X-linked muscular dystrophy with abnormal dystrophin (en) View
359642016	en	Synonym (core metadata concept)	X-linked muscular dystrophy with abnormal dystrophin	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (535427026) - 240048000 -> 127954009 (363698007) View
363698007 \|Finding site (attribute)\|	127954009 \|Skeletal muscle structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6122049022) - 240048000 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10526952027) - 240048000 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10526953021) - 240048000 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11284003020) - 240048000 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11284005029) - 240048000 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11577131023) - 240048000 -> 255314001 (263502005) View
263502005 \|Clinical course (attribute)\|	255314001 \|Progressive (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4985029024) - 240048000 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4985030025) - 240048000 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4993777029) - 240048000 -> 127954009 (363698007) View
363698007 \|Finding site (attribute)\|	127954009 \|Skeletal muscle structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1731573029) - 240048000 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1731574024) - 240048000 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3093562023) - 240048000 -> 127954009 (363698007) View
363698007 \|Finding site (attribute)\|	127954009 \|Skeletal muscle structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2979213027) - 240048000 -> 127954009 (363698007) View
363698007 \|Finding site (attribute)\|	127954009 \|Skeletal muscle structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2979214022) - 240048000 -> 127954009 (363698007) View
363698007 \|Finding site (attribute)\|	127954009 \|Skeletal muscle structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3093561027) - 240048000 -> 127954009 (363698007) View
363698007 \|Finding site (attribute)\|	127954009 \|Skeletal muscle structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (2914317028) - 240048000 -> 127954009 (363698007) View
363698007 \|Finding site (attribute)\|	127954009 \|Skeletal muscle structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2914318022) - 240048000 -> 127954009 (363698007) View
363698007 \|Finding site (attribute)\|	127954009 \|Skeletal muscle structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2821413026) - 240048000 -> 127954009 (363698007) View
363698007 \|Finding site (attribute)\|	127954009 \|Skeletal muscle structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2821414021) - 240048000 -> 127954009 (363698007) View
363698007 \|Finding site (attribute)\|	127954009 \|Skeletal muscle structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2674411029) - 240048000 -> 127954009 (363698007) View
363698007 \|Finding site (attribute)\|	127954009 \|Skeletal muscle structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2674412020) - 240048000 -> 127954009 (363698007) View
363698007 \|Finding site (attribute)\|	127954009 \|Skeletal muscle structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2523159025) - 240048000 -> 127954009 (363698007) View
363698007 \|Finding site (attribute)\|	127954009 \|Skeletal muscle structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2477444024) - 240048000 -> 4720007 (116676008) View
116676008 \|Associated morphology (attribute)\|	4720007 \|Dystrophy (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (56817022) - 240048000 -> 240047005 (116680003) View
116680003 \|Is a (attribute)\|	240047005 \|X-linked muscular dystrophy with limb girdle distribution (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
240047005 View
240047005	X-linked muscular dystrophy with limb girdle distribution (disorder)	X-linked muscular dystrophy with limb girdle distribution	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
387732009 View
387732009	Becker muscular dystrophy (disorder)	Becker's disease	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
76670001 View
76670001	Duchenne muscular dystrophy (disorder)	Duchenne muscular dystrophy	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
240049008 View
240049008	Intermediate x-linked muscular dystrophy (disorder)	Intermediate x-linked muscular dystrophy	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
240050008 View
240050008	Manifesting female carrier of x-linked muscular dystrophy (disorder)	Manifesting female carrier of x-linked muscular dystrophy	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 (506ff622-cd3e-5c26-898e-915a1d71ce06) 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)\|

Terminology chevron_right Concepts chevron_right 240048000

Descriptions

Relationships

Parent Concepts

Children Concepts

Extended Maps

Recent searches