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 (disorder)\Congenital myopathy with abnormal subcellular organelles (disorder)

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

\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\...

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

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

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

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

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital myopathy with abnormal subcellular organelles (disorder)	Is a	Congenital myopathy	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital myopathy with abnormal subcellular organelles (disorder)	Finding site	Skeletal muscle structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital myopathy with abnormal subcellular organelles (disorder)	Is a	Congenital anomaly of skeletal muscle (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital myopathy with abnormal subcellular organelles (disorder)	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital myopathy with abnormal subcellular organelles (disorder)	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital myopathy with abnormal subcellular organelles (disorder)	Finding site	Skeletal muscle system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital myopathy with abnormal subcellular organelles (disorder)	Finding site	Skeletal muscle structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital myopathy with abnormal subcellular organelles (disorder)	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital myopathy with abnormal subcellular organelles (disorder)	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital myopathy with abnormal subcellular organelles (disorder)	Associated morphology	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital myopathy with abnormal subcellular organelles (disorder)	Finding site	Skeletal muscle structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital myopathy with abnormal subcellular organelles (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital myopathy with abnormal subcellular organelles (disorder)	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital myopathy with abnormal subcellular organelles (disorder)	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Myopathy with cytoplasmic inclusions (disorder)	Is a	False	Congenital myopathy with abnormal subcellular organelles (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Myopathy with tubular aggregates	Is a	True	Congenital myopathy with abnormal subcellular organelles (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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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
113259014	Congenital myopathy with abnormal subcellular organelles	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
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	Only initial character 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
5900201000241119	myopathie congénitale avec organites intracellulaires anormaux	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5900211000241117	myopathie congénitale avec organites subcellulaires anormaux	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5900201000241119	myopathie congénitale avec organites intracellulaires anormaux	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5900211000241117	myopathie congénitale avec organites subcellulaires anormaux	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module