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770759001: Autosomal dominant intermediate Charcot-Marie-Tooth disease type F (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
3702487015 Autosomal dominant intermediate Charcot-Marie-Tooth disease type F en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3702488013 Autosomal dominant intermediate Charcot-Marie-Tooth disease type F (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5404919011 A rare hereditary motor and sensory neuropathy disorder characterized by the typical CMT phenotype (slowly progressive distal muscle atrophy and weakness in upper and lower limbs, distal sensory loss in extremities, reduced or absent deep tendon reflexes and foot deformities) with nerve biopsy demonstrating demyelinating and axonal changes and nerve conduction velocities varying from the demyelinating to axonal range. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404920017 A rare hereditary motor and sensory neuropathy disorder characterised by the typical CMT phenotype (slowly progressive distal muscle atrophy and weakness in upper and lower limbs, distal sensory loss in extremities, reduced or absent deep tendon reflexes and foot deformities) with nerve biopsy demonstrating demyelinating and axonal changes and nerve conduction velocities varying from the demyelinating to axonal range. 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
Autosomal dominant intermediate Charcot-Marie-Tooth disease type F Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Autosomal dominant intermediate Charcot-Marie-Tooth disease type F Finding site Peripheral nervous system structure true Inferred relationship Some 1
Autosomal dominant intermediate Charcot-Marie-Tooth disease type F Is a Hereditary motor and sensory neuropathy (disorder) 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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