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1187621006: DnaJ heat shock protein family (Hsp40) member B2-related Charcot-Marie-Tooth disease type 2 (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4674401018 DNAJB2-related Charcot-Marie-Tooth disease type 2 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
4674402013 DnaJ heat shock protein family (Hsp40) member B2-related Charcot-Marie-Tooth disease type 2 (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
4674403015 DnaJ heat shock protein family (Hsp40) member B2-related Charcot-Marie-Tooth disease type 2 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5399666012 A rare autosomal recessive axonal hereditary motor and sensory neuropathy characterized by adolescent or adult onset of slowly progressive muscle weakness and atrophy of the distal lower limbs progressing to involve also the upper limbs and proximal muscles, and sensory impairment. Patients present gait disturbances and loss of reflexes, at later stages loss of ambulation, dysarthria, dysphagia, facial weakness, and impairment of respiratory muscles requiring assisted ventilation. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5399667015 A rare autosomal recessive axonal hereditary motor and sensory neuropathy characterised by adolescent or adult onset of slowly progressive muscle weakness and atrophy of the distal lower limbs progressing to involve also the upper limbs and proximal muscles, and sensory impairment. Patients present gait disturbances and loss of reflexes, at later stages loss of ambulation, dysarthria, dysphagia, facial weakness, and impairment of respiratory muscles requiring assisted ventilation. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
4674401018 DNAJB2-related Charcot-Marie-Tooth disease type 2 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
4674402013 DnaJ heat shock protein family (Hsp40) member B2-related Charcot-Marie-Tooth disease type 2 (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
4674403015 DnaJ heat shock protein family (Hsp40) member B2-related Charcot-Marie-Tooth disease type 2 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
4674404014 A rare autosomal recessive axonal hereditary motor and sensory neuropathy with characteristics of adolescent or adult onset of slowly progressive muscle weakness and atrophy of the distal lower limbs progressing to involve also the upper limbs and proximal muscles and sensory impairment. Patients present gait disturbances and loss of reflexes, at later stages loss of ambulation, dysarthria, dysphagia, facial weakness and impairment of respiratory muscles requiring assisted ventilation. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5399666012 A rare autosomal recessive axonal hereditary motor and sensory neuropathy characterized by adolescent or adult onset of slowly progressive muscle weakness and atrophy of the distal lower limbs progressing to involve also the upper limbs and proximal muscles, and sensory impairment. Patients present gait disturbances and loss of reflexes, at later stages loss of ambulation, dysarthria, dysphagia, facial weakness, and impairment of respiratory muscles requiring assisted ventilation. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5399667015 A rare autosomal recessive axonal hereditary motor and sensory neuropathy characterised by adolescent or adult onset of slowly progressive muscle weakness and atrophy of the distal lower limbs progressing to involve also the upper limbs and proximal muscles, and sensory impairment. Patients present gait disturbances and loss of reflexes, at later stages loss of ambulation, dysarthria, dysphagia, facial weakness, and impairment of respiratory muscles requiring assisted ventilation. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3427801001000111 Charcot-Marie-Tooth-Krankheit, autosomal-rezessive, Typ 2, DNAJB2-assoziierte de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6107721000241116 neuropathie héréditaire sensitivomotrice de type 2 associée à DNAJB2 (dnaJ heat shock protein family (Hsp40) member B2) fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6107731000241119 maladie de Charcot-Marie-Tooth de type 2 associée à 'dnaJ heat shock protein family (Hsp40) member B2' fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6107741000241112 CMT2 (Charcot-Marie-Tooth disease type 2) associée à DNAJB2 (dnaJ heat shock protein family (Hsp40) member B2) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6107721000241116 neuropathie héréditaire sensitivomotrice de type 2 associée à DNAJB2 (dnaJ heat shock protein family (Hsp40) member B2) fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6107731000241119 maladie de Charcot-Marie-Tooth de type 2 associée à 'dnaJ heat shock protein family (Hsp40) member B2' fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6107741000241112 CMT2 (Charcot-Marie-Tooth disease type 2) associée à DNAJB2 (dnaJ heat shock protein family (Hsp40) member B2) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3427801001000111 Charcot-Marie-Tooth-Krankheit, autosomal-rezessive, Typ 2, DNAJB2-assoziierte de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
DnaJ heat shock protein family (Hsp40) member B2-related Charcot-Marie-Tooth disease type 2 (disorder) Is a Autosomal recessive Charcot-Marie-Tooth disease type 2 true Inferred relationship Existential restriction modifier (core metadata concept)
DnaJ heat shock protein family (Hsp40) member B2-related Charcot-Marie-Tooth disease type 2 (disorder) Finding site Peripheral nervous system structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
DnaJ heat shock protein family (Hsp40) member B2-related Charcot-Marie-Tooth disease type 2 (disorder) Finding site Nerve structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
DnaJ heat shock protein family (Hsp40) member B2-related Charcot-Marie-Tooth disease type 2 (disorder) Associated morphology Atrophy true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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