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771475006: Young adult-onset distal hereditary motor neuropathy (disorder)


Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3706376010 Young adult-onset distal hereditary motor neuropathy en Synonym Active Case insensitive SNOMED CT core
3706377018 Autosomal recessive distal spinal muscular atrophy type 5 en Synonym Active Case insensitive SNOMED CT core
3706378011 Young adult-onset distal hereditary motor neuropathy (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3706379015 A rare autosomal recessive distal hereditary motor neuropathy with characteristics of slowly progressive muscular weakness, hypotonia and atrophy of the lower limbs, more pronounced distally, leading to paralysis, and loss of tendon reflexes. Additional features may include pes cavus and mild dysphonia. The upper limbs are relatively spared. There is evidence this disease is caused by homozygous mutation in the DNAJB2 gene on chromosome 2q35. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Young adult-onset distal hereditary motor neuropathy Is a Distal spinal muscular atrophy false Inferred relationship Some
Young adult-onset distal hereditary motor neuropathy Clinical course Progressive true Inferred relationship Some 2
Young adult-onset distal hereditary motor neuropathy Finding site Structure of nervous system false Inferred relationship Some 1
Young adult-onset distal hereditary motor neuropathy Occurrence Adulthood true Inferred relationship Some 1
Young adult-onset distal hereditary motor neuropathy Is a Chronic nervous system disorder true Inferred relationship Some
Young adult-onset distal hereditary motor neuropathy Is a Autosomal recessive hereditary disorder false Inferred relationship Some
Young adult-onset distal hereditary motor neuropathy Finding site Nerve structure true Inferred relationship Some 3
Young adult-onset distal hereditary motor neuropathy Finding site Peripheral nervous system structure true Inferred relationship Some 1
Young adult-onset distal hereditary motor neuropathy Is a Autosomal recessive distal hereditary motor neuropathy true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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