dock_to_right dock_to_right arrow_back

Terminology chevron_right Concepts chevron_right 46804001

Production

add

Component

46804001

The component that hold information about this concept.

Fully Specified Name (FSN)

Severe x-linked myotubular myopathy (disorder)

Shortest Term

X-linked centronuclear myopathy

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

Severe x-linked myotubular myopathy (disorder)

SCTID: 46804001, Primitive, Active

46804001|Severe x-linked myotubular myopathy (disorder)|

en Severe x-linked myotubular myopathy
en Severe x-linked myotubular myopathy (disorder)
en X-linked centronuclear myopathy

Expression

46804001 |Severe x-linked myotubular myopathy (disorder)|
 <<< 82077006 |Myotubular myopathy (disorder)| + 
1162976004 |X-linked recessive hereditary disease (disorder)| + 
363070008 |Developmental hereditary disorder (disorder)| + 
363212003 |Hereditary disorder of musculoskeletal system (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 49755003 |Morphologically abnormal structure (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)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
78016011 - Severe x-linked myotubular myopathy (en) View
78016011	en	Synonym (core metadata concept)	Severe x-linked myotubular myopathy	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	False
4637472010 - Severe X-linked myotubular myopathy (en) View
4637472010	en	Synonym (core metadata concept)	Severe X-linked myotubular myopathy	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	True
784194017 - Severe x-linked myotubular myopathy (disorder) (en) View
784194017	en	Fully specified name (core metadata concept)	Severe x-linked myotubular myopathy (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	False
4637471015 - Severe X-linked myotubular myopathy (disorder) (en) View
4637471015	en	Fully specified name (core metadata concept)	Severe X-linked myotubular myopathy (disorder)	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	True
494651015 - X-linked centronuclear myopathy (en) View
494651015	en	Synonym (core metadata concept)	X-linked centronuclear myopathy	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (14026352029) - 46804001 -> 1162976004 (116680003) View
116680003 \|Is a (attribute)\|	1162976004 \|X-linked recessive hereditary disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14026353023) - 46804001 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14026354028) - 46804001 -> 363212003 (116680003) View
116680003 \|Is a (attribute)\|	363212003 \|Hereditary disorder of musculoskeletal system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (789493025) - 46804001 -> 127954009 (363698007) View
363698007 \|Finding site (attribute)\|	127954009 \|Skeletal muscle structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4978422028) - 46804001 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4978423022) - 46804001 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4988504022) - 46804001 -> 127954009 (363698007) View
363698007 \|Finding site (attribute)\|	127954009 \|Skeletal muscle structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6076584028) - 46804001 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10523578022) - 46804001 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10523579025) - 46804001 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (1768269025) - 46804001 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3401787021) - 46804001 -> 127954009 (363698007) View
363698007 \|Finding site (attribute)\|	127954009 \|Skeletal muscle structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3401788027) - 46804001 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1768270029) - 46804001 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (789492024) - 46804001 -> 24484000 (246112005) View
246112005 \|Severity (attribute)\|	24484000 \|Severe (severity modifier) (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (224298020) - 46804001 -> 82077006 (116680003) View
116680003 \|Is a (attribute)\|	82077006 \|Myotubular myopathy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1162976004 View
1162976004	X-linked recessive hereditary disease (disorder)	X-linked recessive hereditary disease	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
363070008 View
363070008	Developmental hereditary disorder (disorder)	Developmental hereditary disorder	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
82077006 View
82077006	Myotubular myopathy (disorder)	Myotubular myopathy	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

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 (0b0e71e0-9fa8-5d70-98c6-806169c2ea2e) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	G71.2	TRUE	ALWAYS G71.2	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 46804001

Descriptions

Relationships

Parent Concepts

Children Concepts

Extended Maps

Recent searches