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129621001: Nemaline myopathy, early onset type (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\General finding of soft tissue\Finding of power of skeletal muscle\Muscle weakness\Nemaline myopathy\Nemaline myopathy, early onset type
\General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Nemaline myopathy\Nemaline myopathy, early onset type

\Muscle finding\Finding of power of skeletal muscle\Muscle weakness\Nemaline myopathy\Nemaline myopathy, early onset type
\Muscle finding\Disorder of muscle\Disorder of skeletal muscle\Nemaline myopathy\Nemaline myopathy, early onset type

\Musculoskeletal finding\Finding of power of skeletal muscle\Muscle weakness\Nemaline myopathy\Nemaline myopathy, early onset type
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal muscle\Nemaline myopathy\Nemaline myopathy, early onset type

\Disease\Genetic disease\Nemaline myopathy\Nemaline myopathy, early onset type
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Nemaline myopathy\Nemaline myopathy, early onset type
\Disease\Disorder of muscle\Disorder of skeletal muscle\Nemaline myopathy\Nemaline myopathy, early onset type
\Disease\Congenital disease (disorder)\Nemaline myopathy, early onset type
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Nemaline myopathy\Nemaline myopathy, early onset type

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Nemaline myopathy, early onset type	Is a	Nemaline myopathy	true	Inferred relationship	Some
Nemaline myopathy, early onset type	Finding site	Skeletal muscle structure (body structure)	false	Inferred relationship	Some	1
Nemaline myopathy, early onset type	Occurrence	Congenital	false	Inferred relationship	Some
Nemaline myopathy, early onset type	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	1
Nemaline myopathy, early onset type	Finding site	Skeletal muscle structure (body structure)	true	Inferred relationship	Some	1
Nemaline myopathy, early onset type	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	1
Nemaline myopathy, early onset type	Occurrence	Congenital	false	Inferred relationship	Some	2
Nemaline myopathy, early onset type	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	2
Nemaline myopathy, early onset type	Finding site	Skeletal muscle structure (body structure)	false	Inferred relationship	Some	2
Nemaline myopathy, early onset type	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	1
Nemaline myopathy, early onset type	Occurrence	Congenital	true	Inferred relationship	Some	1
Nemaline myopathy, early onset type	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	false	Inferred relationship	Some	1
Nemaline myopathy, early onset type	Is a	Congenital disease (disorder)	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Typical nemaline myopathy	Is a	True	Nemaline myopathy, early onset type	Inferred relationship	Some
Actin accumulation myopathy (disorder)	Is a	True	Nemaline myopathy, early onset type	Inferred relationship	Some
Intermediate nemaline myopathy	Is a	True	Nemaline myopathy, early onset type	Inferred relationship	Some
Severe congenital nemaline myopathy	Is a	True	Nemaline myopathy, early onset type	Inferred relationship	Some
Amish nemaline myopathy (disorder)	Is a	True	Nemaline myopathy, early onset type	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
208442014	Nemaline myopathy, early onset type	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
733777019	Nemaline myopathy, early onset type (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4695183010	Congenital nemaline myopathy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
7623771000172114	myopathie à némaline à début précoce	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
7623781000172112	myopathie congénitale à bâtonnets d'apparition précoce	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
5493121000172117	'early onset' nemalinemyopathie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
5493131000172119	vroeg optredende nemalinemyopathie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)