49793008: Hereditary motor neuron disease (disorder)

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

\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary motor neuron disease

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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2009. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

82938010 Familial motor neuron disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

82941018 Hereditary motor neuron disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

787510011 Hereditary motor neuron disease (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

6309971000241119 maladie héréditaire des neurones moteurs fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

6309981000241117 maladie héréditaire des motoneurones fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hereditary motor neuron disease	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Hereditary motor neuron disease	Is a	Familial disease	false	Inferred relationship	Some
Hereditary motor neuron disease	Is a	Motor neuron disease	true	Inferred relationship	Some
Hereditary motor neuron disease	Associated morphology	dégénérescence	false	Inferred relationship	Some	2
Hereditary motor neuron disease	Finding site	Motor neuron	false	Inferred relationship	Some
Hereditary motor neuron disease	Finding site	Structure of nervous system (body structure)	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Spinal muscular atrophy	Is a	True	Hereditary motor neuron disease	Inferred relationship	Some
A very rare motor neuron disease characterized by progressive upper motor neuron dysfunction leading to loss of the ability to walk with wheelchair dependence, and subsequently, loss of motor speech production.	Is a	True	Hereditary motor neuron disease	Inferred relationship	Some
A rare, genetic, neuromuscular disease characterized by adult-onset muscle weakness and atrophy in a scapuloperoneal distribution, mild involvement of the facial muscles, dysphagia, and gynecomastia. Elevated serum CK levels and mixed myopathic and neurogenic abnormalities are associated clinical findings.	Is a	True	Hereditary motor neuron disease	Inferred relationship	Some

This concept is not in any reference sets