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Code System Concept

Code System Concept Code	1172634009
Code System Concept Name	Autosomal dominant Charcot-Marie-Tooth disease type 2W (disorder)
Code System Preferred Concept Name	Autosomal dominant Charcot-Marie-Tooth disease type 2W (disorder)
Concept Status	Published
Concept Status Date	09/01/2024
Code System Name	SNOMED-CT

Concept Relationships
Concept Details

Concept Details

Code System Code	PH_SNOMED-CT
Code System OID	2.16.840.1.113883.6.96
HL7 Table 0396 Code	SCT
Superseded By Concept
SDO Concept Status	Active
SDO Concept Status Date	09/01/2022
SDO Date Created	09/30/2021
SDO Date Revised	09/30/2021
Description	A rare predominantly axonal hereditary motor and sensory neuropathy with characteristics of broad phenotypic spectrum of slowly progressive signs and symptoms mainly affecting the lower limbs. Most patients present with gait difficulties and distal sensory impairment while some may lack sensory symptoms altogether. Pes cavus is frequently reported. Age of onset is also highly variable ranging from childhood to late adulthood.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
4634894016	Autosomal dominant Charcot-Marie-Tooth disease type 2W	Active	Synonym	false	false
4634895015	Autosomal dominant Charcot-Marie-Tooth disease type 2 due to HARS mutation	Active	Synonym	false	false
4634897011	Autosomal dominant Charcot-Marie-Tooth disease type 2 due to HARS (histidyl-tRNA synthetase 1) mutation	Active	Synonym	false	false

Associated Value Sets

Value Set Name	Version(s)
Clinical Finding (NNDSS)	2 , 1

Parent Concepts Parent Concepts Parent/Child (Relationship Type) Autosomal dominant Charcot-Marie-Tooth disease type 2 (disorder) {1156835005 , SNOMED-CT }	Other Relationships No other relationships present.
Child Concepts No child concepts present.