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82077006: Myotubular myopathy (disorder)


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)

4 descendants. Search Descendants:

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)

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