240084007: Congenital myopathy with fiber type disproportion (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\Myopathy with abnormality of histochemical fibre type\Congenital myopathy with fibre type disproportion

\Muscle finding\Disorder of muscle\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myopathy with abnormality of histochemical fibre type\Congenital myopathy with fibre type disproportion

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

\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myopathy with abnormality of histochemical fibre type\Congenital myopathy with fibre type disproportion

\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Myopathy with abnormality of histochemical fibre type\Congenital myopathy with fibre type disproportion

\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myopathy with abnormality of histochemical fibre type\Congenital myopathy with fibre type disproportion
\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\Myopathy with abnormality of histochemical fibre type\Congenital myopathy with fibre type disproportion
\Disease\Disorder of muscle\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myopathy with abnormality of histochemical fibre type\Congenital myopathy with fibre type disproportion
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Myopathy with abnormality of histochemical fibre type\Congenital myopathy with fibre type disproportion
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myopathy with abnormality of histochemical fibre type\Congenital myopathy with fibre type disproportion
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Myopathy with abnormality of histochemical fibre type\Congenital myopathy with fibre type disproportion

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
Congenital myopathy with fibre type disproportion	Is a	Myopathy with abnormality of histochemical fibre type	true	Inferred relationship	Some
Congenital myopathy with fibre type disproportion	Finding site	Skeletal muscle structure	true	Inferred relationship	Some	1
Congenital myopathy with fibre type disproportion	Is a	Disorder of skeletal muscle	false	Inferred relationship	Some
Congenital myopathy with fibre type disproportion	Associated morphology	kongenital anomali	false	Inferred relationship	Some	1
Congenital myopathy with fibre type disproportion	Occurrence	Congenital	false	Inferred relationship	Some
Congenital myopathy with fibre type disproportion	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	1
Congenital myopathy with fibre type disproportion	Associated morphology	kongenital anomali	false	Inferred relationship	Some	1
Congenital myopathy with fibre type disproportion	Occurrence	Congenital	false	Inferred relationship	Some	2
Congenital myopathy with fibre type disproportion	Associated morphology	utvecklingsabnormitet	false	Inferred relationship	Some	2
Congenital myopathy with fibre type disproportion	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	2
Congenital myopathy with fibre type disproportion	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital myopathy with fibre type disproportion	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Congenital myopathy with fibre type disproportion	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

GB English

US English

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Id	Description	Lang	Type	Status	Case?	Module
359688010	Congenital myopathy with fibre type disproportion	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
359689019	Congenital myopathy with fiber type disproportion	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
629178018	Congenital myopathy with fiber type disproportion (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1708521000052116	medfödd myopati med disproportionell fibertyp	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)