240081004: Autosomal recessive centronuclear myopathy (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 (disorder)\Myotubular myopathy\Autosomal recessive centronuclear myopathy

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

\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\...

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

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

\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle (disorder)\Myotubular myopathy\Autosomal recessive centronuclear myopathy
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle (disorder)\Myotubular myopathy\Autosomal recessive centronuclear myopathy
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle (disorder)\Myotubular myopathy\Autosomal recessive centronuclear myopathy
\Disease\Disorder of muscle\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle (disorder)\Myotubular myopathy\Autosomal recessive centronuclear myopathy
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle (disorder)\Myotubular myopathy\Autosomal recessive centronuclear myopathy
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle (disorder)\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	Existential restriction modifier (core metadata concept)
Autosomal recessive centronuclear myopathy	Finding site	Skeletal muscle structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Autosomal recessive centronuclear myopathy	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal recessive centronuclear myopathy	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Autosomal recessive centronuclear myopathy	Finding site	Skeletal muscle structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Autosomal recessive centronuclear myopathy	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Autosomal recessive centronuclear myopathy	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Autosomal recessive centronuclear myopathy	Associated morphology	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Autosomal recessive centronuclear myopathy	Finding site	Skeletal muscle structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Autosomal recessive centronuclear myopathy	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Autosomal recessive centronuclear myopathy	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Autosomal recessive centronuclear myopathy	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	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
359684012	Autosomal recessive centronuclear myopathy	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
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	Only initial character 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
3428171001000114	Myopathie, zentronukleäre, autosomal-rezessive	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
914441000172116	AR-CNM - autosomal recessive centronuclear myopathy	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
982711000172117	myopathie centronucléaire autosomique récessive	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
914441000172116	AR-CNM - autosomal recessive centronuclear myopathy	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
982711000172117	myopathie centronucléaire autosomique récessive	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3428171001000114	Myopathie, zentronukleäre, autosomal-rezessive	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module