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Code System Concept

Code System Concept Code	773393001
Code System Concept Name	Autosomal dominant Charcot-Marie-Tooth disease type 2Q (disorder)
Code System Preferred Concept Name	Autosomal dominant Charcot-Marie-Tooth disease type 2Q (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Superseded By Concept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	01/31/2019
SDO Date Created	01/31/2019
SDO Date Revised	01/31/2019
Description	A rare subtype of autosomal dominant Charcot-Marie-Tooth disease type 2 with characteristics of adolescent to adulthood-onset of symmetrical, slowly progressive distal muscle weakness and atrophy (with a predominant weakness of the distal lower limbs) associated with reduced or absent deep tendon reflexes, pes cavus and mild to moderated deep sensory impairment. There is evidence this disease is caused by a heterozygous loss-of-function mutation in the DHTKD1 gene on chromosome 10p14.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
3723359013	Autosomal dominant Charcot-Marie-Tooth disease type 2Q	Active	Synonym	false	false

Associated Value Sets

Value Set Name	Version(s)
Clinical Finding (NNDSS)	2 , 1
Disease	10 , 9 , 8
Problem Value Set	3

Parent Concepts Parent Concepts Parent/Child (Relationship Type) Autosomal dominant Charcot-Marie-Tooth disease type 2 (disorder) {1156835005 , SNOMED-CT } Autosomal dominant hereditary disorder (disorder) {11164009 , SNOMED-CT } Charcot-Marie-Tooth disease, type II (disorder) {398187000 , SNOMED-CT } Chronic nervous system disorder (disorder) {128283000 , SNOMED-CT }	Other Relationships No other relationships present.
Child Concepts No child concepts present.