240085008: Congenital myopathy with uniform fiber type (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 uniform fiber type

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

\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 uniform fiber type

\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 uniform fiber type

\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 uniform fiber type
\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 uniform fiber type
\Disease\Disorder of muscle\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myopathy with abnormality of histochemical fibre type\Congenital myopathy with uniform fiber type
\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 uniform fiber type
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myopathy with abnormality of histochemical fibre type\Congenital myopathy with uniform fiber type
\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 uniform fiber type

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 uniform fiber type	Is a	Myopathy with abnormality of histochemical fibre type	true	Inferred relationship	Some
Congenital myopathy with uniform fiber type	Finding site	Skeletal muscle structure (body structure)	true	Inferred relationship	Some	1
Congenital myopathy with uniform fiber type	Is a	Disorder of skeletal muscle	false	Inferred relationship	Some
Congenital myopathy with uniform fiber type	Occurrence	Congenital	false	Inferred relationship	Some
Congenital myopathy with uniform fiber type	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	1
Congenital myopathy with uniform fiber type	Finding site	Skeletal muscle structure (body structure)	false	Inferred relationship	Some	1
Congenital myopathy with uniform fiber type	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	1
Congenital myopathy with uniform fiber type	Occurrence	Congenital	false	Inferred relationship	Some	2
Congenital myopathy with uniform fiber type	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	2
Congenital myopathy with uniform fiber type	Finding site	Skeletal muscle structure (body structure)	false	Inferred relationship	Some	2
Congenital myopathy with uniform fiber type	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital myopathy with uniform fiber type	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Congenital myopathy with uniform fiber type	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
359690011	Congenital myopathy with uniform fiber type	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
359691010	Congenital myopathy with uniform fibre type	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
629179014	Congenital myopathy with uniform fiber type (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
7653851000172111	myopathie congénitale avec uniformité des types de fibres musculaires	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
5527291000172116	congenitale myopathie met uniform vezeltype	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)