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82077006: Myotubular myopathy (disorder)

SNOMED CT Concept\Clinical 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 skeletal AND/OR smooth 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\Congenital anomaly of skeletal muscle\Myotubular myopathy

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

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

Descriptions:

Id Description Lang Type Status Case? Module

136147016 Myotubular myopathy en Synonym Active Entire term case insensitive SNOMED CT core module

136148014 Centronuclear myopathy en Synonym Active Entire term case insensitive SNOMED CT core module

823423014 Myotubular myopathy (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Myotubular myopathy	Is a	Congenital myopathy	false	Inferred relationship	Existential restriction modifier
Myotubular myopathy	Finding site	Skeletal muscle structure	true	Inferred relationship	Existential restriction modifier	1
Myotubular myopathy	Is a	Disorder of skeletal muscle	false	Inferred relationship	Existential restriction modifier
Myotubular myopathy	Is a	Congenital anomaly of skeletal muscle	true	Inferred relationship	Existential restriction modifier
Myotubular myopathy	Associated morphology	Congenital anomaly	false	Inferred relationship	Existential restriction modifier	1
Myotubular myopathy	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier
Myotubular myopathy	Finding site	Skeletal muscle structure	false	Inferred relationship	Existential restriction modifier	1
Myotubular myopathy	Associated morphology	Congenital anomaly	false	Inferred relationship	Existential restriction modifier	1
Myotubular myopathy	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	2
Myotubular myopathy	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	2
Myotubular myopathy	Finding site	Skeletal muscle structure	false	Inferred relationship	Existential restriction modifier	2
Myotubular myopathy	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Myotubular myopathy	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	1
Myotubular myopathy	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Autosomal recessive centronuclear myopathy	Is a	True	Myotubular myopathy	Inferred relationship	Existential restriction modifier
Myotubular myopathy with type I atrophy	Is a	True	Myotubular myopathy	Inferred relationship	Existential restriction modifier
Severe X-linked myotubular myopathy	Is a	True	Myotubular myopathy	Inferred relationship	Existential restriction modifier
Autosomal dominant centronuclear myopathy	Is a	True	Myotubular myopathy	Inferred relationship	Existential restriction modifier
X-linked myotubular myopathy, abnormal genitalia syndrome	Is a	True	Myotubular myopathy	Inferred relationship	Existential restriction modifier

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
136147016	Myotubular myopathy	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
136148014	Centronuclear myopathy	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
823423014	Myotubular myopathy (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module