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715665006: Hereditary motor and sensory neuropathy Okinawa type (disorder)


Status: current, Primitive. Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3303343010 Hereditary motor and sensory neuropathy Okinawa type (disorder) en Fully specified name Active Initial character case insensitive SNOMED CT core
3303344016 Hereditary motor and sensory neuropathy Okinawa type en Synonym Active Initial character case insensitive SNOMED CT core
3303345015 Hereditary motor and sensory neuropathy proximal type en Synonym Active Case insensitive SNOMED CT core
3303346019 An autosomal dominant form of hereditary motor and sensory neuropathy with dominant proximal involvement. Manifestations include adult-onset proximal neurogenic atrophy, sensory involvement, painful muscle cramps, fasciculations, areflexia, and high incidences of elevated creatine kinase levels, hyperlipidemia, and diabetes mellitus. en Definition Active Case sensitive SNOMED CT core
3303347011 An autosomal dominant form of hereditary motor and sensory neuropathy with dominant proximal involvement. Manifestations include adult-onset proximal neurogenic atrophy, sensory involvement, painful muscle cramps, fasciculations, areflexia, and high incidences of elevated creatine kinase levels, hyperlipidaemia, and diabetes mellitus. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hereditary motor and sensory neuropathy Okinawa type Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Hereditary motor and sensory neuropathy Okinawa type Is a Hereditary motor and sensory neuropathy true Inferred relationship Some
Hereditary motor and sensory neuropathy Okinawa type Finding site Peripheral nervous system structure true Inferred relationship Some 1

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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