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17101000146103: congenitale neuromusculaire afwijking (aandoening)

SNOMED CT Concept\Clinical finding (finding)\...

\General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Myoneural disorder\Congenital combined disorder of muscle and peripheral nerve (disorder)

\Muscle finding\Disorder of muscle\Disorder of skeletal muscle\Myoneural disorder\Congenital combined disorder of muscle and peripheral nerve (disorder)

\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal muscle\Myoneural disorder\Congenital combined disorder of muscle and peripheral nerve (disorder)

\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital combined disorder of muscle and peripheral nerve (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the peripheral nervous system\Myoneural disorder\Congenital combined disorder of muscle and peripheral nerve (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Myoneural disorder\Congenital combined disorder of muscle and peripheral nerve (disorder)
\Disease\Disorder of muscle\Disorder of skeletal muscle\Myoneural disorder\Congenital combined disorder of muscle and peripheral nerve (disorder)
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Myoneural disorder\Congenital combined disorder of muscle and peripheral nerve (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Mar 2017. Module: SNOMED CT Netherlands NRC maintained module (core metadata concept)

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital combined disorder of muscle and peripheral nerve (disorder)	Finding site	Peripheral nervous system structure	true	Inferred relationship	Some	2
Congenital combined disorder of muscle and peripheral nerve (disorder)	Is a	Congenital disease (disorder)	true	Inferred relationship	Some
Congenital combined disorder of muscle and peripheral nerve (disorder)	Is a	Myoneural disorder	true	Inferred relationship	Some
Congenital combined disorder of muscle and peripheral nerve (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital combined disorder of muscle and peripheral nerve (disorder)	Finding site	Skeletal muscle structure	true	Inferred relationship	Some	3
Congenital combined disorder of muscle and peripheral nerve (disorder)	Is a	Congenital neurological disorder (disorder)	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Congenital end-plate acetylcholinesterase deficiency (disorder)	Is a	False	Congenital combined disorder of muscle and peripheral nerve (disorder)	Inferred relationship	Some
Congenital myasthenic syndrome (disorder)	Is a	True	Congenital combined disorder of muscle and peripheral nerve (disorder)	Inferred relationship	Some
Congenital and developmental myasthenia	Is a	False	Congenital combined disorder of muscle and peripheral nerve (disorder)	Inferred relationship	Some
Deafness, encephaloneuropathy, obesity, valvulopathy syndrome	Is a	True	Congenital combined disorder of muscle and peripheral nerve (disorder)	Inferred relationship	Some
Digital extensor muscle aplasia with polyneuropathy (disorder)	Is a	True	Congenital combined disorder of muscle and peripheral nerve (disorder)	Inferred relationship	Some
Duane anomaly, myopathy, scoliosis syndrome (disorder)	Is a	True	Congenital combined disorder of muscle and peripheral nerve (disorder)	Inferred relationship	Some
Amyotonia congenita	Is a	True	Congenital combined disorder of muscle and peripheral nerve (disorder)	Inferred relationship	Some
Schwartz-Jampel syndrome	Is a	True	Congenital combined disorder of muscle and peripheral nerve (disorder)	Inferred relationship	Some
Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)	Is a	True	Congenital combined disorder of muscle and peripheral nerve (disorder)	Inferred relationship	Some
Neurogenic muscle weakness, ataxia and retinitis pigmentosa (disorder)	Is a	True	Congenital combined disorder of muscle and peripheral nerve (disorder)	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
134021000146115	Congenital combined disorder of muscle and peripheral nerve (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
134031000146118	Congenital combined disorder of muscle and peripheral nerve	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
703621000146114	congenitale neuromusculaire afwijking (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
703631000146111	congenitale neuromusculaire afwijking	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)