240081004: Autosomal recessive centronuclear 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\Autosomal recessive centronuclear myopathy

\Muscle finding\Disorder of 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 muscle\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myotubular myopathy\Autosomal recessive centronuclear myopathy
\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\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 (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

359684012 Autosomal recessive centronuclear myopathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

629175015 Autosomal recessive centronuclear myopathy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3884341000052117 autosomalt recessiv centronukleär myopati sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal recessive centronuclear myopathy	Is a	Myotubular myopathy	true	Inferred relationship	Some
Autosomal recessive centronuclear myopathy	Finding site	Skeletal muscle structure	true	Inferred relationship	Some	1
Autosomal recessive centronuclear myopathy	Occurrence	Congenital	false	Inferred relationship	Some
Autosomal recessive centronuclear myopathy	Associated morphology	kongenital anomali	false	Inferred relationship	Some	1
Autosomal recessive centronuclear myopathy	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	1
Autosomal recessive centronuclear myopathy	Associated morphology	kongenital anomali	false	Inferred relationship	Some	1
Autosomal recessive centronuclear myopathy	Occurrence	Congenital	false	Inferred relationship	Some	2
Autosomal recessive centronuclear myopathy	Associated morphology	utvecklingsabnormitet	false	Inferred relationship	Some	2
Autosomal recessive centronuclear myopathy	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	2
Autosomal recessive centronuclear myopathy	Occurrence	Congenital	true	Inferred relationship	Some	1
Autosomal recessive centronuclear myopathy	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Autosomal recessive centronuclear myopathy	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets