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1197152005: Distal hereditary motor neuropathy type 5 (disorder)


Status: current, Primitive. Date: 28-Feb 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4695171013 Distal hereditary motor neuropathy type V en Synonym Active Initial character case insensitive SNOMED CT core
4695172018 Distal hereditary motor neuropathy type 5 (disorder) en Fully specified name Active Case insensitive SNOMED CT core
4695173011 Distal hereditary motor neuropathy type 5 en Synonym Active Case insensitive SNOMED CT core
4695174017 Distal spinal muscular atrophy type 5 en Synonym Active Case insensitive SNOMED CT core
4695175016 dHMN5 - distal hereditary motor neuropathy type 5 en Synonym Active Case sensitive SNOMED CT core
4695176015 A rare autosomal dominant distal hereditary motor neuropathy disease with characteristics of muscle weakness and wasting predominantly affecting the hands, in particular the thenar and first dorsal interosseus muscles, and/or marked foot deformity and gait disturbance. Sensation is normal, although reduced response to vibration has been described. The disease is slowly progressive with an age of onset within the first few decades of life. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Distal hereditary motor neuropathy type 5 Is a Autosomal dominant distal hereditary motor neuropathy true Inferred relationship Some
Distal hereditary motor neuropathy type 5 Finding site Nerve structure true Inferred relationship Some 1
Distal hereditary motor neuropathy type 5 Finding site Peripheral nervous system structure true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

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