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778003000: Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain (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
5405533014 A rare subtype of autosomal dominant intermediate Charcot-Marie-Tooth disease characterized by debilitating neuropathic pain associated with mild, distal, symmetrical lower limb sensory loss and mild or absent motor dysfunction. Patients typically manifest with burning, aching, shooting, or throbbing pain and intermittent paresthesia in toes, heels and ankles. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5405534015 A rare subtype of autosomal dominant intermediate Charcot-Marie-Tooth disease characterised by debilitating neuropathic pain associated with mild, distal, symmetrical lower limb sensory loss and mild or absent motor dysfunction. Patients typically manifest with burning, aching, shooting, or throbbing pain and intermittent paraesthesia in toes, heels and ankles. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3736372011 Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3736373018 Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
A rare subtype of autosomal dominant intermediate Charcot-Marie-Tooth disease characterized by debilitating neuropathic pain associated with mild, distal, symmetrical lower limb sensory loss and mild or absent motor dysfunction. Patients typically manifest with burning, aching, shooting, or throbbing pain and intermittent paresthesia in toes, heels and ankles. Is a Hereditary motor and sensory neuropathy (disorder) true Inferred relationship Some
A rare subtype of autosomal dominant intermediate Charcot-Marie-Tooth disease characterized by debilitating neuropathic pain associated with mild, distal, symmetrical lower limb sensory loss and mild or absent motor dysfunction. Patients typically manifest with burning, aching, shooting, or throbbing pain and intermittent paresthesia in toes, heels and ankles. Is a Autosomal dominant hereditary disorder (disorder) true Inferred relationship Some
A rare subtype of autosomal dominant intermediate Charcot-Marie-Tooth disease characterized by debilitating neuropathic pain associated with mild, distal, symmetrical lower limb sensory loss and mild or absent motor dysfunction. Patients typically manifest with burning, aching, shooting, or throbbing pain and intermittent paresthesia in toes, heels and ankles. Finding site Peripheral nervous system structure true Inferred relationship Some 1
A rare subtype of autosomal dominant intermediate Charcot-Marie-Tooth disease characterized by debilitating neuropathic pain associated with mild, distal, symmetrical lower limb sensory loss and mild or absent motor dysfunction. Patients typically manifest with burning, aching, shooting, or throbbing pain and intermittent paresthesia in toes, heels and ankles. Is a Disorder characterized by pain false Inferred relationship Some
A rare subtype of autosomal dominant intermediate Charcot-Marie-Tooth disease characterized by debilitating neuropathic pain associated with mild, distal, symmetrical lower limb sensory loss and mild or absent motor dysfunction. Patients typically manifest with burning, aching, shooting, or throbbing pain and intermittent paresthesia in toes, heels and ankles. Is a Neuropathic pain true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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