341000146108: autosomaal recessieve motorneuronziekte (aandoening)

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

\Genetic disease\Hereditary disease\...

\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary motor neuron disease\Autosomal recessive hereditary motor neuron disease (disorder)

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive hereditary motor neuron disease (disorder)

\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary motor neuron disease\Autosomal recessive hereditary motor neuron disease (disorder)
\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary motor neuron disease\Autosomal recessive hereditary motor neuron disease (disorder)
\Disorder of body system\Disorder of nervous system (disorder)\Motor neuron disease\Hereditary motor neuron disease\Autosomal recessive hereditary motor neuron disease (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2014. Module: SNOMED CT Netherlands NRC maintained module (core metadata concept)

Descriptions:

Id Description Lang Type Status Case? Module

5911000146110 Autosomal recessive hereditary motor neuron disease (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

5921000146117 Autosomal recessive hereditary motor neuron disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

30241000146115 autosomaal recessieve motorneuronziekte nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

30251000146117 autosomaal recessieve voorhoornziekte nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

4185471000146112 autosomaal recessieve motorneuronziekte (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal recessive hereditary motor neuron disease (disorder)	Is a	Hereditary motor neuron disease	true	Inferred relationship	Some
Autosomal recessive hereditary motor neuron disease (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Autosomal recessive hereditary motor neuron disease (disorder)	Finding site	Structure of nervous system (body structure)	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Werdnig-Hoffmann disease	Is a	True	Autosomal recessive hereditary motor neuron disease (disorder)	Inferred relationship	Some
Spinal muscular atrophy with progressive myoclonic epilepsy (disorder)	Is a	True	Autosomal recessive hereditary motor neuron disease (disorder)	Inferred relationship	Some
Spinal muscular atrophy with respiratory distress type 1	Is a	False	Autosomal recessive hereditary motor neuron disease (disorder)	Inferred relationship	Some
Juvenile primary lateral sclerosis (disorder)	Is a	True	Autosomal recessive hereditary motor neuron disease (disorder)	Inferred relationship	Some
Distal hereditary motor neuropathy Jerash type	Is a	False	Autosomal recessive hereditary motor neuron disease (disorder)	Inferred relationship	Some
Autosomal recessive lower motor neuron disease with childhood onset	Is a	True	Autosomal recessive hereditary motor neuron disease (disorder)	Inferred relationship	Some
Young adult-onset distal hereditary motor neuropathy	Is a	False	Autosomal recessive hereditary motor neuron disease (disorder)	Inferred relationship	Some
Autosomal recessive distal spinal muscular atrophy type 3 (disorder)	Is a	False	Autosomal recessive hereditary motor neuron disease (disorder)	Inferred relationship	Some
Early-onset progressive encephalopathy, spastic ataxia, distal spinal muscular atrophy syndrome (disorder)	Is a	True	Autosomal recessive hereditary motor neuron disease (disorder)	Inferred relationship	Some

Reference Sets

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