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770630005: Distal hereditary motor neuropathy type 1 (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3701703015 Distal hereditary motor neuropathy type 1 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3701704014 Distal hereditary motor neuropathy type 1 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3701705010 Autosomal dominant distal juvenile spinal muscular atrophy type 1 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3701706011 A rare neuromuscular disease with characteristics of slowly progressive lower limb muscular weakness and atrophy, without sensory impairment. Additional clinical features may include pes cavus, hammertoe and increased muscle tone. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Distal hereditary motor neuropathy type 1 (disorder) Finding site Structure of nervous system (body structure) false Inferred relationship Some 2
Distal hereditary motor neuropathy type 1 (disorder) Is a Distal spinal muscular atrophy true Inferred relationship Some
Distal hereditary motor neuropathy type 1 (disorder) Clinical course Progressive (qualifier value) true Inferred relationship Some 1
Distal hereditary motor neuropathy type 1 (disorder) Is a Chronic nervous system disorder (disorder) false Inferred relationship Some
Distal hereditary motor neuropathy type 1 (disorder) Is a Autosomal dominant hereditary disorder false Inferred relationship Some
Distal hereditary motor neuropathy type 1 (disorder) Finding site Peripheral nervous system structure true Inferred relationship Some 2
Distal hereditary motor neuropathy type 1 (disorder) Finding site Nerve structure true Inferred relationship Some 3
Distal hereditary motor neuropathy type 1 (disorder) Is a Autosomal dominant distal hereditary motor neuropathy (disorder) true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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