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240081004: Autosomal recessive centronuclear 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\Autosomal recessive centronuclear myopathy

\Muscle finding\Disorder of skeletal AND/OR smooth muscle\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myotubular myopathy\Autosomal recessive centronuclear myopathy

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

\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myotubular myopathy\Autosomal recessive centronuclear myopathy

\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Myotubular myopathy\Autosomal recessive centronuclear myopathy

\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myotubular myopathy\Autosomal recessive centronuclear 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\Autosomal recessive centronuclear myopathy
\Disease\Disorder of skeletal AND/OR smooth muscle\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myotubular myopathy\Autosomal recessive centronuclear 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\Autosomal recessive centronuclear myopathy
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myotubular myopathy\Autosomal recessive centronuclear 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\Autosomal recessive centronuclear 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

359684012 Autosomal recessive centronuclear myopathy en Synonym Active Entire term case insensitive SNOMED CT core module

629175015 Autosomal recessive centronuclear 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
Autosomal recessive centronuclear myopathy	Is a	Myotubular myopathy	true	Inferred relationship	Existential restriction modifier
Autosomal recessive centronuclear myopathy	Finding site	Skeletal muscle structure	true	Inferred relationship	Existential restriction modifier	1
Autosomal recessive centronuclear myopathy	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier
Autosomal recessive centronuclear myopathy	Associated morphology	Congenital anomaly	false	Inferred relationship	Existential restriction modifier	1
Autosomal recessive centronuclear myopathy	Finding site	Skeletal muscle structure	false	Inferred relationship	Existential restriction modifier	1
Autosomal recessive centronuclear myopathy	Associated morphology	Congenital anomaly	false	Inferred relationship	Existential restriction modifier	1
Autosomal recessive centronuclear myopathy	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	2
Autosomal recessive centronuclear myopathy	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	2
Autosomal recessive centronuclear myopathy	Finding site	Skeletal muscle structure	false	Inferred relationship	Existential restriction modifier	2
Autosomal recessive centronuclear myopathy	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Autosomal recessive centronuclear myopathy	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	1
Autosomal recessive centronuclear myopathy	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	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
359684012	Autosomal recessive centronuclear myopathy	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
629175015	Autosomal recessive centronuclear myopathy (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module