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715799004: Charcot-Marie-Tooth disease type 4G (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3303751011 Charcot-Marie-Tooth disease type 4G (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3303752016 Charcot-Marie-Tooth disease type 4G en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3303753014 Hereditary motor and sensory neuropathy Russe type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5401104010 Charcot-Marie-Tooth disease type 4G (CMT4G) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by early childhood onset of progressive distal muscle weakness and atrophy, delayed motor development, prominent distal sensory impairment, areflexia, moderately reduced nerve conduction velocities, and foot and hand deformities in Balkan (Russe) Gypsies. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401105011 Charcot-Marie-Tooth disease type 4G (CMT4G) is a subtype of Charcot-Marie-Tooth disease type 4 characterised by early childhood onset of progressive distal muscle weakness and atrophy, delayed motor development, prominent distal sensory impairment, areflexia, moderately reduced nerve conduction velocities, and foot and hand deformities in Balkan (Russe) Gypsies. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3303751011 Charcot-Marie-Tooth disease type 4G (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3303752016 Charcot-Marie-Tooth disease type 4G en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3303753014 Hereditary motor and sensory neuropathy Russe type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3303754015 Charcot-Marie-Tooth disease, type 4G (CMT4G) is a demyelinating CMT peripheral sensorimotor polyneuropathy. Onset occurs between 8 and 16 years of age with distal lower limb weakness, followed by distal upper limb involvement with a more variable age of onset of between 10 and 43 years. Sensory loss is also a prominent feature. The disease-causing gene has not yet been identified but linkage analysis and recombination mapping have led to identification of a small interval on 10q23.2. Transmitted in an autosomal recessive manner. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401104010 Charcot-Marie-Tooth disease type 4G (CMT4G) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by early childhood onset of progressive distal muscle weakness and atrophy, delayed motor development, prominent distal sensory impairment, areflexia, moderately reduced nerve conduction velocities, and foot and hand deformities in Balkan (Russe) Gypsies. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401105011 Charcot-Marie-Tooth disease type 4G (CMT4G) is a subtype of Charcot-Marie-Tooth disease type 4 characterised by early childhood onset of progressive distal muscle weakness and atrophy, delayed motor development, prominent distal sensory impairment, areflexia, moderately reduced nerve conduction velocities, and foot and hand deformities in Balkan (Russe) Gypsies. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3393011001000113 Charcot-Marie-Tooth-Krankheit Typ 4G de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
924771000172112 maladie de Charcot-Marie-Tooth type 4G fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1011191000172113 CMT4G - Charcot-Marie-Tooth disease type 4G fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
924771000172112 maladie de Charcot-Marie-Tooth type 4G fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1011191000172113 CMT4G - Charcot-Marie-Tooth disease type 4G fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3393011001000113 Charcot-Marie-Tooth-Krankheit Typ 4G 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
Charcot-Marie-Tooth disease type 4G (disorder) Is a Charcot-Marie-Tooth disease type 4 true Inferred relationship Existential restriction modifier (core metadata concept)
Charcot-Marie-Tooth disease type 4G (disorder) Finding site Peripheral nervous system structure false Inferred relationship Existential restriction modifier (core metadata concept)
Charcot-Marie-Tooth disease type 4G (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Charcot-Marie-Tooth disease type 4G (disorder) Finding site Peripheral nervous system structure 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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