Code System Concept

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Code System Concept

Code System Concept Code	442511009
Code System Concept Name	Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome (disorder)
Code System Preferred Concept Name	Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy 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Superseded By Concept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	07/31/2009
SDO Date Created	07/31/2009
SDO Date Revised	07/31/2009
Description	A rare neurodegenerative disorder belonging to the group of infantile progressive encephalopathies. Onset occurs during the first few weeks or months of life with hypotonia, poor feeding, drowsiness and abnormal movements. Infantile spasms, hypsarrhythmia and seizures appear during the first year of life. Visual loss, abnormal eye movements and optic atrophy also occur during infancy. Transmission appears to be autosomal recessive. A significant number of patients have been described who displayed most of the diagnostic criteria and features of PEHO syndrome, but did not appear to have cerebral atrophy on MRI, lacked the ophthalmologic signs and showed no reduction in CSF IGF-1 levels. This group of patients was diagnosed with PEHO-like syndrome. The prognosis is poor and most patients die before 15 years of age, mainly as a result of pneumonia or aspiration.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
2820529017	Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome	Active	Synonym	false	false
2820530010	Progressive encephalopathy with oedema, hypsarrhythmia and optic atrophy syndrome	Active	Synonym	false	false
3702069012	PEHO syndrome	Active	Synonym	false	false
3702070013	PEHO (progressive encephalopathy with oedema, hypsarrhythmia and optic atrophy) syndrome	Active	Synonym	false	false
3702071012	PEHO (progressive encephalopathy with edema, hypsarrhythmia and optic atrophy) syndrome	Active	Synonym	false	false

Associated Value Sets

Value Set Name	Version(s)
Clinical Finding (NNDSS)	1
Disease	10 , 9 , 8 , 7 , 6 , 5 , 4 , 3
Problem Value Set	3 , 2

Parent Concepts

Parent Concepts

Parent/Child (Relationship Type)

Autosomal hereditary disorder (disorder) {1899006 , SNOMED-CT } Chronic brain syndrome (disorder) {78689005 , SNOMED-CT } Degenerative brain disorder (disorder) {52522001 , SNOMED-CT } Degenerative disease of the central nervous system (disorder) {80690008 , SNOMED-CT } Disorder of brain (disorder) {81308009 , SNOMED-CT } Hereditary degenerative disease of central nervous system (disorder) {106018006 , SNOMED-CT } Hereditary disorder of nervous system (disorder) {363235000 , SNOMED-CT } Hereditary disorder of the visual system (disorder) {363343008 , SNOMED-CT } Hereditary lymphedema (disorder) {254199006 , SNOMED-CT } Inherited optic neuropathy (disorder) {312942003 , SNOMED-CT } Second cranial nerve finding (finding) {106152006 , SNOMED-CT } Seizure disorder (disorder) {128613002 , 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,