240086009: myopathie met cytoplasmatische inclusielichaampjes (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\Myopathy with cytoplasmic inclusions

\Muscle finding\Disorder of muscle\...

\Congenital myopathy (disorder)\Congenital anomaly of skeletal muscle\Myopathy with cytoplasmic inclusions

\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myopathy with cytoplasmic inclusions

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

\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myopathy with cytoplasmic inclusions

\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Myopathy with cytoplasmic inclusions

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

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
Myopathy with cytoplasmic inclusions	Is a	Congenital myopathy with abnormal subcellular organelles	false	Inferred relationship	Some
Myopathy with cytoplasmic inclusions	Finding site	Skeletal muscle structure	true	Inferred relationship	Some	1
Myopathy with cytoplasmic inclusions	Is a	Disorder of skeletal muscle	false	Inferred relationship	Some
Myopathy with cytoplasmic inclusions	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some	1
Myopathy with cytoplasmic inclusions	Occurrence	Congenital	false	Inferred relationship	Some
Myopathy with cytoplasmic inclusions	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some	1
Myopathy with cytoplasmic inclusions	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	1
Myopathy with cytoplasmic inclusions	Occurrence	Congenital	false	Inferred relationship	Some	2
Myopathy with cytoplasmic inclusions	Associated morphology	gebrekkige ontwikkeling (afwijkende morfologie)	false	Inferred relationship	Some	2
Myopathy with cytoplasmic inclusions	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	2
Myopathy with cytoplasmic inclusions	Occurrence	Congenital	true	Inferred relationship	Some	1
Myopathy with cytoplasmic inclusions	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Myopathy with cytoplasmic inclusions	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Myopathy with cytoplasmic inclusions	Is a	Congenital anomaly of skeletal muscle	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Inclusion body myopathy 2 (disorder)	Is a	True	Myopathy with cytoplasmic inclusions	Inferred relationship	Some
Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (disorder)	Is a	True	Myopathy with cytoplasmic inclusions	Inferred relationship	Some
Desmin related myopathy with Mallory body-like inclusions (disorder)	Is a	True	Myopathy with cytoplasmic inclusions	Inferred relationship	Some
X-linked myopathy with excessive autophagy (disorder)	Is a	True	Myopathy with cytoplasmic inclusions	Inferred relationship	Some
Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)	Is a	True	Myopathy with cytoplasmic inclusions	Inferred relationship	Some
Desmin-related myofibrillar myopathy (disorder)	Is a	True	Myopathy with cytoplasmic inclusions	Inferred relationship	Some
Hereditary inclusion body myopathy type 4 (disorder)	Is a	True	Myopathy with cytoplasmic inclusions	Inferred relationship	Some

Reference Sets

Dutch rare neuromuscular disorders simple reference set (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
359692015	Myopathy with cytoplasmic inclusions	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
629180012	Myopathy with cytoplasmic inclusions (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
13211000146119	myopathie met cytoplasmatische inclusielichaampjes	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
962191000146116	myopathie met cytoplasmatische inclusielichaampjes (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)