82077006: Myotubular myopathy (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

\Muscle finding\Disorder of muscle\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myotubular myopathy

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

\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myotubular myopathy

\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon (disorder)\Congenital anomaly of skeletal muscle\Myotubular myopathy

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

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module	Reference Sets
136147016	Myotubular myopathy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core	GB English: Preferred (foundation metadata concept)
136148014	Centronuclear myopathy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core	GB English: Acceptable (foundation metadata concept)
823423014	Myotubular myopathy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core	GB English: Preferred (foundation metadata concept)
1457141000005110	Myotubulær myopati	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)	Danish language reference set (foundation metadata concept): Preferred (foundation metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Myotubular myopathy	Is a	Congenital myopathy	false	Inferred relationship	Some
Myotubular myopathy	Finding site	Skeletal muscle structure (body structure)	true	Inferred relationship	Some	1
Myotubular myopathy	Is a	Disorder of skeletal muscle	false	Inferred relationship	Some
Myotubular myopathy	Is a	Congenital anomaly of skeletal muscle	true	Inferred relationship	Some
Myotubular myopathy	Associated morphology	kongenit anomali	false	Inferred relationship	Some	1
Myotubular myopathy	Occurrence	Congenital	false	Inferred relationship	Some
Myotubular myopathy	Finding site	Skeletal muscle structure (body structure)	false	Inferred relationship	Some	1
Myotubular myopathy	Associated morphology	kongenit anomali	false	Inferred relationship	Some	1
Myotubular myopathy	Occurrence	Congenital	false	Inferred relationship	Some	2
Myotubular myopathy	Associated morphology	dysgenese	false	Inferred relationship	Some	2
Myotubular myopathy	Finding site	Skeletal muscle structure (body structure)	false	Inferred relationship	Some	2
Myotubular myopathy	Occurrence	Congenital	true	Inferred relationship	Some	1
Myotubular myopathy	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Myotubular myopathy	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Autosomal recessive centronuclear myopathy	Is a	True	Myotubular myopathy	Inferred relationship	Some
Myotubular myopathy with type I atrophy	Is a	True	Myotubular myopathy	Inferred relationship	Some
Severe x-linked myotubular myopathy (disorder)	Is a	True	Myotubular myopathy	Inferred relationship	Some
Autosomal dominant centronuclear myopathy (disorder)	Is a	True	Myotubular myopathy	Inferred relationship	Some

Reference Sets

Danish translated concepts reference set (foundation metadata concept)