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Code System Concept

Code System Concept Code	1187566006
Code System Concept Name	Autosomal dominant Charcot-Marie-Tooth disease type 2 due to trafficking from endoplasmic reticulum to golgi regulator mutation (disorder)
Code System Preferred Concept Name	Autosomal dominant Charcot-Marie-Tooth disease type 2 due to trafficking from endoplasmic reticulum to golgi regulator mutation (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Superseded By Concept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	01/31/2022
SDO Date Revised	01/31/2022
Description	A rare axonal hereditary motor and sensory neuropathy with characteristics of adult onset of slowly progressive distal muscle weakness and atrophy, decreased deep tendon reflexes of lower limbs and mild distal sensory loss leading to gait difficulties in most patients.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
4674181014	Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation	Active	Synonym	false	false
4674193017	Autosomal dominant Charcot-Marie-Tooth disease type 2 due to trafficking from endoplasmic reticulum to golgi regulator 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.