763533003: Distal hereditary motor neuropathy Jerash type (disorder)

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

\Genetic disease\Hereditary disease\...

\Hereditary disorder by system\Hereditary disorder of nervous system\Autosomal recessive distal hereditary motor neuropathy (disorder)\Distal hereditary motor neuropathy Jerash type

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive distal hereditary motor neuropathy (disorder)\Distal hereditary motor neuropathy Jerash type

\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Autosomal recessive distal hereditary motor neuropathy (disorder)\Distal hereditary motor neuropathy Jerash type
\Disorder of body system\Disorder of nervous system (disorder)\Neuropathy (disorder)\Peripheral motor neuropathy\Autosomal recessive distal hereditary motor neuropathy (disorder)\Distal hereditary motor neuropathy Jerash type
\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Autosomal recessive distal hereditary motor neuropathy (disorder)\Distal hereditary motor neuropathy Jerash type
\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the peripheral nervous system\Peripheral motor neuropathy\Autosomal recessive distal hereditary motor neuropathy (disorder)\Distal hereditary motor neuropathy Jerash type

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3642768011 Autosomal recessive distal spinal muscular atrophy type 2 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3642769015 Distal hereditary motor neuropathy Jerash type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3642770019 Distal hereditary motor neuropathy Jerash type (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3642771015 A rare genetic neuromuscular disease characterised by progressive, symmetrical, moderate to severe, distal muscle weakness and atrophy, without sensory involvement, first affecting the lower limbs (towards the end of the first decade) and then involving (within two years) the upper extremities. Patients typically develop foot drop, pes varus, hammertoes and claw hands. Pyramidal tract signs (e.g. brisk knee reflexes, positive Babinski sign, absent ankle reflexes) are initially associated but regress as disease stabilises. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3642772010 A rare genetic neuromuscular disease characterized by progressive, symmetrical, moderate to severe, distal muscle weakness and atrophy, without sensory involvement, first affecting the lower limbs (towards the end of the first decade) and then involving (within two years) the upper extremities. Patients typically develop foot drop, pes varus, hammertoes and claw hands. Pyramidal tract signs (e.g. brisk knee reflexes, positive Babinski sign, absent ankle reflexes) are initially associated but regress as disease stabilizes. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

884371000172110 neuropathie motrice distale héréditaire type Jerash fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

932301000172113 amyotrophie spinale distale autosomique récessive type 2 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

877651000172111 distale erfelijke motorische neuropathie, Jerash-type nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

931831000172115 autosomaal recessieve distale spinale musculaire atrofie type 2 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Distal hereditary motor neuropathy Jerash type	Is a	Autosomal recessive hereditary disorder	false	Inferred relationship	Some
Distal hereditary motor neuropathy Jerash type	Is a	Distal spinal muscular atrophy	false	Inferred relationship	Some
Distal hereditary motor neuropathy Jerash type	Finding site	Structure of nervous system (body structure)	false	Inferred relationship	Some	1
Distal hereditary motor neuropathy Jerash type	Is a	Autosomal recessive distal hereditary motor neuropathy (disorder)	true	Inferred relationship	Some
Distal hereditary motor neuropathy Jerash type	Finding site	Nerve structure	true	Inferred relationship	Some	2
Distal hereditary motor neuropathy Jerash type	Finding site	Peripheral nervous system structure	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3642768011	Autosomal recessive distal spinal muscular atrophy type 2	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3642769015	Distal hereditary motor neuropathy Jerash type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3642770019	Distal hereditary motor neuropathy Jerash type (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3642771015	A rare genetic neuromuscular disease characterised by progressive, symmetrical, moderate to severe, distal muscle weakness and atrophy, without sensory involvement, first affecting the lower limbs (towards the end of the first decade) and then involving (within two years) the upper extremities. Patients typically develop foot drop, pes varus, hammertoes and claw hands. Pyramidal tract signs (e.g. brisk knee reflexes, positive Babinski sign, absent ankle reflexes) are initially associated but regress as disease stabilises.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3642772010	A rare genetic neuromuscular disease characterized by progressive, symmetrical, moderate to severe, distal muscle weakness and atrophy, without sensory involvement, first affecting the lower limbs (towards the end of the first decade) and then involving (within two years) the upper extremities. Patients typically develop foot drop, pes varus, hammertoes and claw hands. Pyramidal tract signs (e.g. brisk knee reflexes, positive Babinski sign, absent ankle reflexes) are initially associated but regress as disease stabilizes.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
884371000172110	neuropathie motrice distale héréditaire type Jerash	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
932301000172113	amyotrophie spinale distale autosomique récessive type 2	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
877651000172111	distale erfelijke motorische neuropathie, Jerash-type	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
931831000172115	autosomaal recessieve distale spinale musculaire atrofie type 2	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)