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68186003: Congenital myopathy with abnormal subcellular organelles (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\Congenital myopathy with abnormal subcellular organelles

\Muscle finding\Disorder of muscle\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital myopathy with abnormal subcellular organelles

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

\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital myopathy with abnormal subcellular organelles

\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Congenital myopathy with abnormal subcellular organelles

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

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

113259014 Congenital myopathy with abnormal subcellular organelles en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

807993017 Congenital myopathy with abnormal subcellular organelles (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

1586321000052112 medfödd myopati med onormala subcellulära organeller 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
Congenital myopathy with abnormal subcellular organelles	Is a	Congenital myopathy	false	Inferred relationship	Some
Congenital myopathy with abnormal subcellular organelles	Finding site	Skeletal muscle structure	true	Inferred relationship	Some	1
Congenital myopathy with abnormal subcellular organelles	Is a	Congenital anomaly of skeletal muscle	true	Inferred relationship	Some
Congenital myopathy with abnormal subcellular organelles	Associated morphology	kongenital anomali	false	Inferred relationship	Some	1
Congenital myopathy with abnormal subcellular organelles	Occurrence	Congenital	false	Inferred relationship	Some
Congenital myopathy with abnormal subcellular organelles	Finding site	Skeletal muscle system structure	false	Inferred relationship	Some
Congenital myopathy with abnormal subcellular organelles	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	1
Congenital myopathy with abnormal subcellular organelles	Associated morphology	kongenital anomali	false	Inferred relationship	Some	1
Congenital myopathy with abnormal subcellular organelles	Occurrence	Congenital	false	Inferred relationship	Some	2
Congenital myopathy with abnormal subcellular organelles	Associated morphology	utvecklingsabnormitet	false	Inferred relationship	Some	2
Congenital myopathy with abnormal subcellular organelles	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	2
Congenital myopathy with abnormal subcellular organelles	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital myopathy with abnormal subcellular organelles	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Congenital myopathy with abnormal subcellular organelles	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Myopathy with cytoplasmic inclusions	Is a	False	Congenital myopathy with abnormal subcellular organelles	Inferred relationship	Some
Myopathy with tubular aggregates	Is a	True	Congenital myopathy with abnormal subcellular organelles	Inferred relationship	Some

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
113259014	Congenital myopathy with abnormal subcellular organelles	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
807993017	Congenital myopathy with abnormal subcellular organelles (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1586321000052112	medfödd myopati med onormala subcellulära organeller	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)