Code System Concept

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Code System Concept

Code System Concept Code	718221007
Code System Concept Name	Behr syndrome (disorder)
Code System Preferred Concept Name	Behr syndrome (disorder)
Concept Status	Retired
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Superseded By Concept	Concept Code: 297232009 Concept Name: 3-Methylglutaconic aciduria type 3 (disorder) Code System: SNOMED-CT
SDO Concept Status	Inactive
SDO Concept Status Date	07/31/2019
SDO Date Created	07/31/2016
SDO Date Revised	07/31/2019
Description	Behr syndrome includes an optic atrophy associated with neurological manifestations. This syndrome is clinically similar to Costeff syndrome but can be distinguished by the absence of metabolic abnormalities. This inherited disorder is transmitted following an autosomal recessive pattern. The optic atrophy is responsible for a moderate to severe visual impairment that appears early in life. The neurological manifestations can include myoclonic epilepsy, progressive spastic paraplegia due to pyramidal tract involvement, dysarthria, extra-pyramidal tract signs, ataxia, urinary incontinence, mental retardation, posterior column sensory loss or muscle contractures.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
3310359015	Behr syndrome	Active	Synonym	false	false
3311570019	Infantile hereditary optic atrophy with neurological abnormality	Active	Synonym	false	false

Associated Value Sets

Value Set Name	Version(s)
Disease	8 , 7
Problem Value Set	3

Parent Concepts Parent Concepts Parent/Child (Relationship Type) Autosomal recessive hereditary disorder (disorder) {85995004 , SNOMED-CT } Hereditary disorder of nervous system (disorder) {363235000 , SNOMED-CT } Hereditary disorder of the visual system (disorder) {363343008 , SNOMED-CT } Optic atrophy (disorder) {76976005 , 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,