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771144005: Hereditary motor and sensory neuropathy with acrodystrophy (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
3704561018 Autosomal recessive axonal Charcot-Marie-Tooth disease with acrodystrophy en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3704562013 Hereditary motor and sensory neuropathy with acrodystrophy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3704563015 Hereditary motor and sensory neuropathy with acrodystrophy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3704564014 Autosomal recessive Charcot-Marie-Tooth type 2 with acrodystrophy en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3703841011 A rare axonal hereditary motor and sensory neuropathy with characteristics of progressive axonal neuropathy with limb weakness and severe distal sensory loss in all limbs and acrodystrophic changes leading to painless non-healing ulcers, osteomyelitis, contractures and mutilating lesions with loss of terminal phalanges. One family with three affected siblings is described and there have been no further descriptions in the literature since 1999. 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 with acrodystrophy Is a Hereditary motor and sensory neuropathy (disorder) true Inferred relationship Some
Hereditary motor and sensory neuropathy with acrodystrophy Clinical course Progressive (qualifier value) true Inferred relationship Some 1
Hereditary motor and sensory neuropathy with acrodystrophy Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Hereditary motor and sensory neuropathy with acrodystrophy Is a Chronic nervous system disorder (disorder) true Inferred relationship Some
Hereditary motor and sensory neuropathy with acrodystrophy Finding site Peripheral nervous system structure true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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