702382000: 'inclusion body'-myopathie type 2 (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\Inclusion body myopathy 2 (disorder)

\Muscle finding\Disorder of muscle\...

\Congenital myopathy (disorder)\Congenital anomaly of skeletal muscle\Myopathy with cytoplasmic inclusions\Inclusion body myopathy 2 (disorder)

\Hereditary myopathy (disorder)\Inclusion body myopathy 2 (disorder)

\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myopathy with cytoplasmic inclusions\Inclusion body myopathy 2 (disorder)

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

\Hereditary disorder of musculoskeletal system\Inclusion body myopathy 2 (disorder)

\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myopathy with cytoplasmic inclusions\Inclusion body myopathy 2 (disorder)

\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Myopathy with cytoplasmic inclusions\Inclusion body myopathy 2 (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary myopathy (disorder)\Inclusion body myopathy 2 (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Inclusion body myopathy 2 (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Inclusion body myopathy 2 (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Inclusion body myopathy 2 (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital myopathy (disorder)\Congenital anomaly of skeletal muscle\Myopathy with cytoplasmic inclusions\Inclusion body myopathy 2 (disorder)
\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\Inclusion body myopathy 2 (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Inclusion body myopathy 2 (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Inclusion body myopathy 2 (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myopathy with cytoplasmic inclusions\Inclusion body myopathy 2 (disorder)
\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\Inclusion body myopathy 2 (disorder)
\Disease\Disorder of muscle\Congenital myopathy (disorder)\Congenital anomaly of skeletal muscle\Myopathy with cytoplasmic inclusions\Inclusion body myopathy 2 (disorder)
\Disease\Disorder of muscle\Hereditary myopathy (disorder)\Inclusion body myopathy 2 (disorder)
\Disease\Disorder of muscle\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myopathy with cytoplasmic inclusions\Inclusion body myopathy 2 (disorder)
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myopathy with cytoplasmic inclusions\Inclusion body myopathy 2 (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Inclusion body myopathy 2 (disorder)
\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\Inclusion body myopathy 2 (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2014. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Inclusion body myopathy 2 (disorder)	Is a	Myopathy with cytoplasmic inclusions	true	Inferred relationship	Some
Inclusion body myopathy 2 (disorder)	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Inclusion body myopathy 2 (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Inclusion body myopathy 2 (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Inclusion body myopathy 2 (disorder)	Associated morphology	gebrekkige ontwikkeling (afwijkende morfologie)	false	Inferred relationship	Some	1
Inclusion body myopathy 2 (disorder)	Finding site	Skeletal muscle structure	true	Inferred relationship	Some	1
Inclusion body myopathy 2 (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Inclusion body myopathy 2 (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Inclusion body myopathy 2 (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Inclusion body myopathy 2 (disorder)	Is a	Hereditary myopathy (disorder)	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
2995199011	Hereditary inclusion body myopathy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2995276019	Inclusion body myopathy 2 (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2995349016	Rimmed vacuole myopathy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2995564015	Inclusion body myopathy 2	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2995724017	Distal myopathy with rimmed vacuoles	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2995749018	Quadricep sparing inclusion body myopathy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2995887019	Nonaka myopathy	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
6240851000146111	'inclusion body'-myopathie type 2	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6240861000146114	hereditaire inclusielichaammyopathie type 2	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6240871000146115	'inclusion body'-myopathie type 2 (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6240881000146118	HIBM2	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6240891000146116	distale myopathie met 'rimmed vacuoles'	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6240901000146115	DMRV	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6240911000146118	erfelijke 'inclusion body'-myopathie type 2	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6240921000146111	Nonaka-spierdystrofie	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6240931000146113	GNE-myopathie	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6240941000146117	myopathie van Nonaka	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)