351000146106: autosomaal dominante 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 dominant hereditary motor neuron disease (disorder)

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

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

5931000146115 Autosomal dominant 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)

5941000146111 Autosomal dominant 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)

30221000146114 autosomaal dominante motorneuronziekte nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

30231000146111 autosomaal dominante voorhoornziekte nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

4185441000146119 autosomaal dominante 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 dominant hereditary motor neuron disease (disorder)	Is a	Hereditary motor neuron disease	true	Inferred relationship	Some
Autosomal dominant hereditary motor neuron disease (disorder)	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Autosomal dominant 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
Autosomal dominant hereditary spinal muscular atrophy (disorder)	Is a	True	Autosomal dominant hereditary motor neuron disease (disorder)	Inferred relationship	Some
Neurogenic scapuloperoneal syndrome Kaeser type (disorder)	Is a	True	Autosomal dominant hereditary motor neuron disease (disorder)	Inferred relationship	Some

Reference Sets

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