68186003: congenitale myopathie met afwijkende subcellulaire organellen (aandoening)

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\...

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

\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 foetus and/or newborn\Congenital disease (disorder)\Congenital myopathy (disorder)\Congenital anomaly of skeletal muscle\Congenital myopathy with abnormal subcellular organelles
\Disease\Disorder of foetus and/or newborn\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 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\Congenital myopathy (disorder)\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\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:

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	congenitale anomalie (afwijkende morfologie)	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	congenitale anomalie (afwijkende morfologie)	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	gebrekkige ontwikkeling (afwijkende morfologie)	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

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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
9072951000146115	congenitale myopathie met afwijkende subcellulaire organellen (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
9072961000146117	congenitale myopathie met afwijkende subcellulaire organellen	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
9072971000146111	congenitale myopathie met abnormale subcellulaire organellen	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)