240084007: Congenital myopathy with fiber type disproportion (disorder)

SNOMED CT Concept\Clinical finding\...

\General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myopathy with abnormality of histochemical fiber type\Congenital myopathy with fiber type disproportion

\Muscle finding\Disorder of skeletal AND/OR smooth muscle\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myopathy with abnormality of histochemical fiber type\Congenital myopathy with fiber type disproportion

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

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

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

\Disease\Genetic disease\Congenital myopathy with fiber 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 fiber type\Congenital myopathy with fiber 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 fiber type\Congenital myopathy with fiber type disproportion
\Disease\Disorder of skeletal AND/OR smooth muscle\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myopathy with abnormality of histochemical fiber type\Congenital myopathy with fiber type disproportion
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Myopathy with abnormality of histochemical fiber type\Congenital myopathy with fiber type disproportion
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myopathy with abnormality of histochemical fiber type\Congenital myopathy with fiber 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 fiber type\Congenital myopathy with fiber type disproportion

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

359688010 Congenital myopathy with fibre type disproportion en Synonym Active Entire term case insensitive SNOMED CT core module

359689019 Congenital myopathy with fiber type disproportion en Synonym Active Entire term case insensitive SNOMED CT core module

629178018 Congenital myopathy with fiber type disproportion (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital myopathy with fiber type disproportion	Is a	Myopathy with abnormality of histochemical fiber type	true	Inferred relationship	Existential restriction modifier
Congenital myopathy with fiber type disproportion	Finding site	Skeletal muscle structure	true	Inferred relationship	Existential restriction modifier	1
Congenital myopathy with fiber type disproportion	Is a	Disorder of skeletal muscle	false	Inferred relationship	Existential restriction modifier
Congenital myopathy with fiber type disproportion	Associated morphology	Congenital anomaly	false	Inferred relationship	Existential restriction modifier	1
Congenital myopathy with fiber type disproportion	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier
Congenital myopathy with fiber type disproportion	Finding site	Skeletal muscle structure	false	Inferred relationship	Existential restriction modifier	1
Congenital myopathy with fiber type disproportion	Associated morphology	Congenital anomaly	false	Inferred relationship	Existential restriction modifier	1
Congenital myopathy with fiber type disproportion	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	2
Congenital myopathy with fiber type disproportion	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	2
Congenital myopathy with fiber type disproportion	Finding site	Skeletal muscle structure	false	Inferred relationship	Existential restriction modifier	2
Congenital myopathy with fiber type disproportion	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Congenital myopathy with fiber type disproportion	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	1
Congenital myopathy with fiber type disproportion	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Congenital myopathy with fiber type disproportion	Is a	Genetic disease	true	Inferred relationship	Existential restriction modifier

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Congenital fiber-type disproportion myopathy due to ZAK mutation	Is a	True	Congenital myopathy with fiber type disproportion	Inferred relationship	Existential restriction modifier
Congenital fiber-type disproportion myopathy due to selenoprotein N mutation	Is a	True	Congenital myopathy with fiber type disproportion	Inferred relationship	Existential restriction modifier
Congenital fiber-type disproportion myopathy due to actin alpha 1, skeletal muscle mutation	Is a	True	Congenital myopathy with fiber type disproportion	Inferred relationship	Existential restriction modifier
Congenital fiber-type disproportion myopathy due to tropomyosin 3 mutation	Is a	True	Congenital myopathy with fiber type disproportion	Inferred relationship	Existential restriction modifier
Congenital fiber-type disproportion myopathy due to myosin heavy chain 7 mutation	Is a	True	Congenital myopathy with fiber type disproportion	Inferred relationship	Existential restriction modifier

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
359688010	Congenital myopathy with fibre type disproportion	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
359689019	Congenital myopathy with fiber type disproportion	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
629178018	Congenital myopathy with fiber type disproportion (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module