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 (disorder)\Myopathy with abnormality of histochemical fibre type\Congenital myopathy with uniform fiber type (disorder)

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

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

\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle (disorder)\Myopathy with abnormality of histochemical fibre type\Congenital myopathy with uniform fiber type (disorder)

\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle (disorder)\Myopathy with abnormality of histochemical fibre type\Congenital myopathy with uniform fiber type (disorder)

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

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 (disorder)	Is a	Myopathy with abnormality of histochemical fibre type	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital myopathy with uniform fiber type (disorder)	Finding site	Skeletal muscle structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital myopathy with uniform fiber type (disorder)	Is a	Disorder of skeletal muscle	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital myopathy with uniform fiber type (disorder)	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital myopathy with uniform fiber type (disorder)	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital myopathy with uniform fiber type (disorder)	Finding site	Skeletal muscle structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital myopathy with uniform fiber type (disorder)	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital myopathy with uniform fiber type (disorder)	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital myopathy with uniform fiber type (disorder)	Associated morphology	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital myopathy with uniform fiber type (disorder)	Finding site	Skeletal muscle structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital myopathy with uniform fiber type (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital myopathy with uniform fiber type (disorder)	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital myopathy with uniform fiber type (disorder)	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
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
359690011	Congenital myopathy with uniform fiber type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
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	Only initial character 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	Only initial character 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
5036671000241112	myopathie congénitale avec uniformité des types de fibres musculaires	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5036671000241112	myopathie congénitale avec uniformité des types de fibres musculaires	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module