Code System Concept

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Code System Concept

Code System Concept Code	723452007
Code System Concept Name	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome (disorder)
Code System Preferred Concept Name	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract 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Superseded By Concept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	07/31/2017
SDO Date Created	07/31/2017
SDO Date Revised	07/31/2017
Description	A slowly progressive Refsum-like disorder associating signs of peripheral neuropathy with late-onset hearing loss, cataract and pigmentary retinopathy that becomes evident during the third decade of life. The syndrome has been described in three patients from a consanguineous family (one brother, one sister and a male cousin). The disease manifests during childhood with pes cavus and tendo-achilles contractures. A disorder of gait, due to ataxia and spasticity, develops during adulthood. Contrarily to Refsum disease, plasmatic phytanic and pristanic acid levels as well as alpha-oxidation enzymatic activity are normal. Transmission is autosomal recessive. The disease was mapped on chromosome 20 (20p11.21-q12).
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
3424677011	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome	Active	Synonym	false	false
3424678018	PHARC (polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract) syndrome	Active	Synonym	false	false
3424679014	PHARC syndrome	Active	Synonym	false	false
3424680012	Peripheral neuropathy Fiskerstrand type	Active	Synonym	false	false

Associated Value Sets

Value Set Name	Version(s)
Clinical Finding (NNDSS)	2 , 1
Disease	10 , 9 , 8 , 7
Problem Value Set	3

Parent Concepts

Parent Concepts

Parent/Child (Relationship Type)

Auditory system hereditary disorder (disorder) {362991006 , SNOMED-CT } Autosomal recessive retinitis pigmentosa (disorder) {232053004 , SNOMED-CT } Disorder of lipid metabolism (disorder) {267431006 , SNOMED-CT } Hearing loss associated with syndrome (disorder) {232333009 , SNOMED-CT } Hereditary disorder of nervous system (disorder) {363235000 , SNOMED-CT } Polyneuropathy (disorder) {42345000 , 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,