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)\Disorder of skeletal muscle\Nemaline myopathy\Nemaline myopathy, early onset type

\Disease\Genetic disease\Nemaline myopathy\Nemaline myopathy, early onset type
\Disease\Fetal and/or neonatal disorder\Congenital disease\Nemaline myopathy, early onset type
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\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\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:

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

4790781000241115 myopathie à némaline à début précoce fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

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	anomalie congénitale	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	anomalie congénitale	false	Inferred relationship	Some	1
Nemaline myopathy, early onset type	Occurrence	Congenital	false	Inferred relationship	Some	2
Nemaline myopathy, early onset type	Associated morphology	anomalie du développement	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	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	false	Inferred relationship	Some	1
Nemaline myopathy, early onset type	Is a	Congenital disease	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Typical nemaline myopathy is a moderate neonatal form of nemaline myopathy characterized by facial and skeletal muscle weakness and mild respiratory involvement.	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 severe form of nemaline myopathy characterized by severe hypotonia with little spontaneous movement in neonates.	Is a	True	Nemaline myopathy, early onset type	Inferred relationship	Some
A type of nemaline myopathy (NM) only observed in several families of the Amish community.	Is a	True	Nemaline myopathy, early onset type	Inferred relationship	Some

This concept is not in any reference sets