dock_to_right dock_to_right arrow_back

Terminology chevron_right Concepts chevron_right 82077006

Production

add

Component

82077006

The component that hold information about this concept.

Fully Specified Name (FSN)

Myotubular myopathy (disorder)

Shortest Term

Myotubular 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

Myotubular myopathy (disorder)

SCTID: 82077006, Primitive, Active

82077006|Myotubular myopathy (disorder)|

en Centronuclear myopathy
en Myotubular myopathy
en Myotubular myopathy (disorder)

Expression

82077006 |Myotubular myopathy (disorder)|
 <<< 89886004 |Congenital anomaly of skeletal muscle (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
136148014 - Centronuclear myopathy (en) View
136148014	en	Synonym (core metadata concept)	Centronuclear myopathy	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
136147016 - Myotubular myopathy (en) View
136147016	en	Synonym (core metadata concept)	Myotubular myopathy	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
823423014 - Myotubular myopathy (disorder) (en) View
823423014	en	Fully specified name (core metadata concept)	Myotubular myopathy (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (879094024) - 82077006 -> 127954009 (363698007) View
363698007 \|Finding site (attribute)\|	127954009 \|Skeletal muscle structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4977030020) - 82077006 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4977031024) - 82077006 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4987357024) - 82077006 -> 127954009 (363698007) View
363698007 \|Finding site (attribute)\|	127954009 \|Skeletal muscle structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6089027021) - 82077006 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10524660025) - 82077006 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10524661026) - 82077006 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (1779866020) - 82077006 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3325740028) - 82077006 -> 127954009 (363698007) View
363698007 \|Finding site (attribute)\|	127954009 \|Skeletal muscle structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3463340029) - 82077006 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1779865024) - 82077006 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1683389024) - 82077006 -> 75047002 (116680003) View
116680003 \|Is a (attribute)\|	75047002 \|Disorder of skeletal muscle (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (281366021) - 82077006 -> 18148005 (116680003) View
116680003 \|Is a (attribute)\|	18148005 \|Congenital myopathy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1683390026) - 82077006 -> 89886004 (116680003) View
116680003 \|Is a (attribute)\|	89886004 \|Congenital anomaly of skeletal muscle (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
89886004 View
89886004	Congenital anomaly of skeletal muscle (disorder)	Congenital anomaly of skeletal muscle	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1351274008 View
1351274008	Symptomatic form of x-linked centronuclear myopathy in female carrier (disorder)	Symptomatic form of x-linked myotubular myopathy in female carrier	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1255278004 View
1255278004	X-linked myotubular myopathy, abnormal genitalia syndrome (disorder)	Xq28 contiguous gene deletion syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
716696006 View
716696006	Autosomal dominant centronuclear myopathy (disorder)	Autosomal dominant centronuclear myopathy	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
15080006 View
15080006	Myotubular myopathy with type i atrophy (disorder)	Myotubular myopathy with type i atrophy	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
46804001 View
46804001	Severe x-linked myotubular myopathy (disorder)	X-linked centronuclear myopathy	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
240081004 View
240081004	Autosomal recessive centronuclear myopathy (disorder)	Autosomal recessive centronuclear myopathy	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 (2ef84411-2a61-5ff5-bb73-5ebe5d43716e) 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 82077006

Descriptions

Relationships

Parent Concepts

Children Concepts

Extended Maps

Recent searches