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771143004: Hereditary motor and sensory neuropathy type 5 (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
3704558019 Charcot-Marie-Tooth disease, pyramidal features syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3704559010 Hereditary motor and sensory neuropathy type 5 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3704560017 Hereditary motor and sensory neuropathy type 5 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3873462011 Hereditary sensory-motor neuropathy type V en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3703840012 A rare axonal hereditary motor and sensory neuropathy with characteristics of slowly progressive distal muscle weakness and atrophy with or without sensory loss resulting in difficulty in walking, foot drop and pes cavus, that may be associated with pyramidal signs (extensor plantar responses, mild increase in tone, brisk tendon reflexes), muscle cramps, pain and spasticity. 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
Hereditary motor and sensory neuropathy type 5 (disorder) Is a Chronic nervous system disorder (disorder) true Inferred relationship Some
Hereditary motor and sensory neuropathy type 5 (disorder) Clinical course Progressive (qualifier value) true Inferred relationship Some 1
Hereditary motor and sensory neuropathy type 5 (disorder) Is a Hereditary motor and sensory neuropathy (disorder) true Inferred relationship Some
Hereditary motor and sensory neuropathy type 5 (disorder) Finding site Peripheral nervous system structure true Inferred relationship Some 2
Hereditary motor and sensory neuropathy type 5 (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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