129621001: Nemaline myopathy, early onset type (disorder)

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

\General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Nemaline myopathy\Nemaline myopathy, early onset type

\Muscle finding\Disorder of muscle\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Nemaline myopathy\Nemaline myopathy, early onset type

\Musculoskeletal finding\Disorder of musculoskeletal system\...

\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Nemaline myopathy\Nemaline myopathy, early onset type

\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Nemaline myopathy\Nemaline myopathy, early onset type

\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Nemaline myopathy\Nemaline myopathy, early onset type
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Nemaline myopathy\Nemaline myopathy, early onset type
\Disease\Disorder of muscle\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Nemaline myopathy\Nemaline myopathy, early onset type
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Nemaline myopathy\Nemaline myopathy, early onset type
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Nemaline myopathy\Nemaline myopathy, early onset type
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly 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:

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

1587731000052112 nemalinkroppsmyopati, tidigt debuterande typ sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

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	false	Inferred relationship	Some	1
Nemaline myopathy, early onset type	Occurrence	Congenital	false	Inferred relationship	Some
Nemaline myopathy, early onset type	Associated morphology	kongenital anomali	false	Inferred relationship	Some	1
Nemaline myopathy, early onset type	Finding site	Skeletal muscle structure	true	Inferred relationship	Some	1
Nemaline myopathy, early onset type	Associated morphology	kongenital anomali	false	Inferred relationship	Some	1
Nemaline myopathy, early onset type	Occurrence	Congenital	false	Inferred relationship	Some	2
Nemaline myopathy, early onset type	Associated morphology	utvecklingsabnormitet	false	Inferred relationship	Some	2
Nemaline myopathy, early onset type	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	2
Nemaline myopathy, early onset type	Pathological process (attribute)	Pathological developmental process	true	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)	true	Inferred relationship	Some	1

Inbound Relationships

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This concept is not in any reference sets