Code System Concept

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Code System Concept

Code System Concept Code	1222646006
Code System Concept Name	Palmoplantar keratoderma, hereditary motor and sensory neuropathy syndrome (disorder)
Code System Preferred Concept Name	Palmoplantar keratoderma, hereditary motor and sensory neuropathy syndrome (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Superseded By Concept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	05/31/2022
SDO Date Revised	05/31/2022
Description	A rare genetic autosomal dominant hereditary axonal motor and sensory neuropathy disorder with characteristics of childhood-onset palmoplantar keratoderma associated with motor and sensory polyneuropathy manifesting with late-onset, predominantly distal, lower limb muscle weakness and atrophy (later associating mild proximal weakness and upper limb involvement), moderate sensory impairment and normal or near normal nerve conduction velocities. Additional variable manifestations include impaired vibratory sensation, reduced tendon reflexes, pain, talipes equinovarus, pes cavus and nail dystrophy.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
5048287019	Palmoplantar keratoderma, Charcot-Marie-Tooth syndrome	Active	Synonym	false	false
5048291012	Palmoplantar keratoderma, hereditary motor and sensory neuropathy syndrome	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 hereditary disorder (disorder) {11164009 , SNOMED-CT } Hereditary motor and sensory neuropathy (disorder) {398100001 , SNOMED-CT } Hereditary palmoplantar keratoderma (disorder) {239066003 , SNOMED-CT }	Other Relationships No other relationships present.
Child Concepts No child concepts present.

Page last reviewed:June 20, 2024
Page last updated:June 20, 2024
Content source:
- Centers for Disease Control and Prevention,