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771144005: neuropathie sensitivo-motrice axonale héréditaire avec acrodystrophie (trouble)


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
770211000241119 neuropathie sensitivo-motrice axonale héréditaire avec acrodystrophie (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
949321000172111 neuropathie sensitivo-motrice axonale héréditaire avec acrodystrophie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
971921000172114 AR-CMT2 avec acrodystrophie fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
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 est un(e) (attribut) Hereditary motor and sensory neuropathy (disorder) true Inferred relationship Some
Hereditary motor and sensory neuropathy with acrodystrophy évolution clinique (attribut) progressif true Inferred relationship Some 1
Hereditary motor and sensory neuropathy with acrodystrophy est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
Hereditary motor and sensory neuropathy with acrodystrophy est un(e) (attribut) trouble neurologique chronique true Inferred relationship Some
Hereditary motor and sensory neuropathy with acrodystrophy localisation d'une constatation (attribut) structure du système nerveux périphérique 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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