240081004: autosomaal recessieve centronucleaire myopathie (aandoening)

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

\General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myotubular myopathy\Autosomal recessive centronuclear myopathy

\Muscle finding\Disorder of muscle\...

\Congenital myopathy (disorder)\Congenital anomaly of skeletal muscle\Myotubular myopathy\Autosomal recessive centronuclear myopathy

\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myotubular myopathy\Autosomal recessive centronuclear myopathy

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

\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myotubular myopathy\Autosomal recessive centronuclear myopathy

\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Myotubular myopathy\Autosomal recessive centronuclear myopathy

\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital myopathy (disorder)\Congenital anomaly of skeletal muscle\Myotubular myopathy\Autosomal recessive centronuclear myopathy
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Myotubular myopathy\Autosomal recessive centronuclear myopathy
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myotubular myopathy\Autosomal recessive centronuclear myopathy
\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\Myotubular myopathy\Autosomal recessive centronuclear myopathy
\Disease\Disorder of muscle\Congenital myopathy (disorder)\Congenital anomaly of skeletal muscle\Myotubular myopathy\Autosomal recessive centronuclear myopathy
\Disease\Disorder of muscle\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myotubular myopathy\Autosomal recessive centronuclear myopathy
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myotubular myopathy\Autosomal recessive centronuclear myopathy
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Myotubular myopathy\Autosomal recessive centronuclear myopathy

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
Autosomal recessive centronuclear myopathy	Is a	Myotubular myopathy	true	Inferred relationship	Some
Autosomal recessive centronuclear myopathy	Finding site	Skeletal muscle structure	true	Inferred relationship	Some	1
Autosomal recessive centronuclear myopathy	Occurrence	Congenital	false	Inferred relationship	Some
Autosomal recessive centronuclear myopathy	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some	1
Autosomal recessive centronuclear myopathy	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	1
Autosomal recessive centronuclear myopathy	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some	1
Autosomal recessive centronuclear myopathy	Occurrence	Congenital	false	Inferred relationship	Some	2
Autosomal recessive centronuclear myopathy	Associated morphology	gebrekkige ontwikkeling (afwijkende morfologie)	false	Inferred relationship	Some	2
Autosomal recessive centronuclear myopathy	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	2
Autosomal recessive centronuclear myopathy	Occurrence	Congenital	true	Inferred relationship	Some	1
Autosomal recessive centronuclear myopathy	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Autosomal recessive centronuclear myopathy	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
359684012	Autosomal recessive centronuclear myopathy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
629175015	Autosomal recessive centronuclear myopathy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1459221000146113	autosomaal recessieve centronucleaire myopathie (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
1459231000146110	autosomaal recessieve centronucleaire myopathie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)