15080006: Myotubular myopathy with type I atrophy (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\Myotubular myopathy\Myotubular myopathy with type I atrophy

\Muscle finding\Disorder of muscle\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myotubular myopathy\Myotubular myopathy with type I atrophy

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

\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myotubular myopathy\Myotubular myopathy with type I atrophy

\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Myotubular myopathy\Myotubular myopathy with type I atrophy

\Disease\Degenerative disorder\Myotubular myopathy with type I atrophy
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myotubular myopathy\Myotubular myopathy with type I atrophy
\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\Myotubular myopathy\Myotubular myopathy with type I atrophy
\Disease\Disorder of muscle\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myotubular myopathy\Myotubular myopathy with type I atrophy
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Myotubular myopathy\Myotubular myopathy with type I atrophy
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myotubular myopathy\Myotubular myopathy with type I atrophy
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Myotubular myopathy\Myotubular myopathy with type I atrophy

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
Myotubular myopathy with type I atrophy	Is a	Myotubular myopathy	true	Inferred relationship	Some
Myotubular myopathy with type I atrophy	Associated morphology	Atrophy	true	Inferred relationship	Some	2
Myotubular myopathy with type I atrophy	Finding site	Skeletal muscle structure (body structure)	true	Inferred relationship	Some	1
Myotubular myopathy with type I atrophy	Is a	Degenerative disorder of musculoskeletal system	false	Inferred relationship	Some
Myotubular myopathy with type I atrophy	Occurrence	Congenital	false	Inferred relationship	Some
Myotubular myopathy with type I atrophy	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	1
Myotubular myopathy with type I atrophy	Is a	Degenerative disorder	true	Inferred relationship	Some
Myotubular myopathy with type I atrophy	Finding site	Skeletal muscle structure (body structure)	false	Inferred relationship	Some	1
Myotubular myopathy with type I atrophy	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	1
Myotubular myopathy with type I atrophy	Occurrence	Congenital	false	Inferred relationship	Some	2
Myotubular myopathy with type I atrophy	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	2
Myotubular myopathy with type I atrophy	Finding site	Skeletal muscle structure (body structure)	false	Inferred relationship	Some	2
Myotubular myopathy with type I atrophy	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Myotubular myopathy with type I atrophy	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Myotubular myopathy with type I atrophy	Occurrence	Congenital	true	Inferred relationship	Some	1

Inbound Relationships

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Active

Source

Characteristic

Refinability

Group

Reference Sets

GB English

US English

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Id	Description	Lang	Type	Status	Case?	Module
25606015	Myotubular myopathy with type I atrophy	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
741742014	Myotubular myopathy with type I atrophy (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
7599261000172112	myopathie myotubulaire associée à une atrophie de type I	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
5462731000172113	centronucleaire myopathie met spiervezelatrofie type I	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
5462741000172118	myotubulaire myopathie met spiervezelatrofie type 1	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)