703544004: 'inclusion body'-myopathie met vroeg begin van ziekte van Paget en frontotemporale dementie (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 with early-onset Paget disease and frontotemporal dementia (disorder)

\Muscle finding\Disorder of muscle\...

\Congenital myopathy (disorder)\Congenital anomaly of skeletal muscle\Myopathy with cytoplasmic inclusions\Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (disorder)

\Hereditary myopathy (disorder)\Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (disorder)

\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myopathy with cytoplasmic inclusions\Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (disorder)

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

\Hereditary disorder of musculoskeletal system\Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (disorder)

\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myopathy with cytoplasmic inclusions\Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (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 with early-onset Paget disease and frontotemporal dementia (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary myopathy (disorder)\Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (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 with early-onset Paget disease and frontotemporal dementia (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 with early-onset Paget disease and frontotemporal dementia (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (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 with early-onset Paget disease and frontotemporal dementia (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 with early-onset Paget disease and frontotemporal dementia (disorder)
\Disease\Disorder of muscle\Congenital myopathy (disorder)\Congenital anomaly of skeletal muscle\Myopathy with cytoplasmic inclusions\Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (disorder)
\Disease\Disorder of muscle\Hereditary myopathy (disorder)\Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (disorder)
\Disease\Disorder of muscle\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myopathy with cytoplasmic inclusions\Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (disorder)
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myopathy with cytoplasmic inclusions\Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (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 with early-onset Paget disease and frontotemporal dementia (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 with early-onset Paget disease and frontotemporal dementia (disorder)	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (disorder)	Is a	Myopathy with cytoplasmic inclusions	true	Inferred relationship	Some
Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (disorder)	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (disorder)	Associated morphology	gebrekkige ontwikkeling (afwijkende morfologie)	false	Inferred relationship	Some	1
Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (disorder)	Finding site	Skeletal muscle structure	true	Inferred relationship	Some	1
Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (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
3009059013	Lower motor neuron degeneration with Paget-like bone disease	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3009150010	Pagetoid amyotrophic lateral sclerosis	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3009177018	Muscular dystrophy limb-girdle with Paget disease of bone	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3009459019	Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3009478019	Pagetoid neuroskeletal syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3009492013	Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3009710019	IBMPFD - Inclusion body myopathy with early onset Paget disease and frontotemporal dementia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
394661000146115	'inclusion body'-myopathie met vroeg begin van ziekte van Paget en frontotemporale dementie	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
394671000146114	'inclusion body'-myopathie met vroeg begin van ziekte van Paget en frontotemporale dementie (aandoening)	nl	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
5336801000146116	IBMPFD	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)