240087000: myopathie met tubulaire aggregaten (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\Myopathy with tubular aggregates

\Muscle finding\Disorder of muscle\...

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

\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital myopathy with abnormal subcellular organelles\Myopathy with tubular aggregates

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

\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital myopathy with abnormal subcellular organelles\Myopathy with tubular aggregates

\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Congenital myopathy with abnormal subcellular organelles\Myopathy with tubular aggregates

\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital myopathy (disorder)\Congenital anomaly of skeletal muscle\Congenital myopathy with abnormal subcellular organelles\Myopathy with tubular aggregates
\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\Myopathy with tubular aggregates
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital myopathy with abnormal subcellular organelles\Myopathy with tubular aggregates
\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\Myopathy with tubular aggregates
\Disease\Disorder of muscle\Congenital myopathy (disorder)\Congenital anomaly of skeletal muscle\Congenital myopathy with abnormal subcellular organelles\Myopathy with tubular aggregates
\Disease\Disorder of muscle\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital myopathy with abnormal subcellular organelles\Myopathy with tubular aggregates
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital myopathy with abnormal subcellular organelles\Myopathy with tubular aggregates
\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\Myopathy with tubular aggregates

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

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

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Id	Description	Lang	Type	Status	Case?	Module
359693013	Myopathy with tubular aggregates	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
629182016	Myopathy with tubular aggregates (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
13221000146112	myopathie met tubulaire aggregaten	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
28771000146119	tubular aggregates myopathy	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
962201000146119	myopathie met tubulaire aggregaten (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)