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715666007: Charcot-Marie-Tooth disease type IE (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
3303350014 Charcot-Marie-Tooth disease and deafness en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3303351013 Charcot-Marie-Tooth disease type IE (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3303352018 Charcot-Marie-Tooth disease type IE en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3303353011 Charcot-Marie-Tooth disease type 1E en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401025012 A rare subtype of CMT1 characterized by a variable clinical presentation. Onset within the first two years of life with a delay in walking is not uncommon; however, onset may occur later. CMT1E is caused by point mutations in the PMP22 (17p12) gene. The disease severity depends on the particular PMP22 mutation, with some cases being very mild and even resembling hereditary neuropathy with liability to pressure palsies, while others having an earlier onset with a more severe phenotype (reminiscent of Dejerine-Sottas syndrome) than that seen in CMT1A, caused by gene duplication. These severe cases may also report deafness and much slower motor nerve conduction velocities compared to CMT1A patients. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401026013 A rare subtype of CMT1 characterised by a variable clinical presentation. Onset within the first two years of life with a delay in walking is not uncommon; however, onset may occur later. CMT1E is caused by point mutations in the PMP22 (17p12) gene. The disease severity depends on the particular PMP22 mutation, with some cases being very mild and even resembling hereditary neuropathy with liability to pressure palsies, while others having an earlier onset with a more severe phenotype (reminiscent of Dejerine-Sottas syndrome) than that seen in CMT1A, caused by gene duplication. These severe cases may also report deafness and much slower motor nerve conduction velocities compared to CMT1A patients. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3303350014 Charcot-Marie-Tooth disease and deafness en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3303351013 Charcot-Marie-Tooth disease type IE (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3303352018 Charcot-Marie-Tooth disease type IE en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3303353011 Charcot-Marie-Tooth disease type 1E en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401025012 A rare subtype of CMT1 characterized by a variable clinical presentation. Onset within the first two years of life with a delay in walking is not uncommon; however, onset may occur later. CMT1E is caused by point mutations in the PMP22 (17p12) gene. The disease severity depends on the particular PMP22 mutation, with some cases being very mild and even resembling hereditary neuropathy with liability to pressure palsies, while others having an earlier onset with a more severe phenotype (reminiscent of Dejerine-Sottas syndrome) than that seen in CMT1A, caused by gene duplication. These severe cases may also report deafness and much slower motor nerve conduction velocities compared to CMT1A patients. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401026013 A rare subtype of CMT1 characterised by a variable clinical presentation. Onset within the first two years of life with a delay in walking is not uncommon; however, onset may occur later. CMT1E is caused by point mutations in the PMP22 (17p12) gene. The disease severity depends on the particular PMP22 mutation, with some cases being very mild and even resembling hereditary neuropathy with liability to pressure palsies, while others having an earlier onset with a more severe phenotype (reminiscent of Dejerine-Sottas syndrome) than that seen in CMT1A, caused by gene duplication. These severe cases may also report deafness and much slower motor nerve conduction velocities compared to CMT1A patients. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3438921001000114 Charcot-Marie-Tooth-Krankheit Typ 1E de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5476001000241117 maladie de Charcot-Marie-Tooth type 1E fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5476001000241117 maladie de Charcot-Marie-Tooth type 1E fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3438921001000114 Charcot-Marie-Tooth-Krankheit Typ 1E 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 IE (disorder) Is a Auditory system hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Charcot-Marie-Tooth disease type IE (disorder) Is a Charcot-Marie-Tooth disease, type I (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Charcot-Marie-Tooth disease type IE (disorder) Finding site Peripheral nervous system structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Charcot-Marie-Tooth disease type IE (disorder) Finding site Structure of auditory system (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Charcot-Marie-Tooth disease type IE (disorder) Is a Sensorineural hearing loss true Inferred relationship Existential restriction modifier (core metadata concept)
Charcot-Marie-Tooth disease type IE (disorder) Interprets Hearing true Inferred relationship Existential restriction modifier (core metadata concept) 3
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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