718221007: Behr syndrome (disorder)

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3310335013	Behr syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3310359015	Behr syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3311570019	Infantile hereditary optic atrophy with neurological abnormality	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3311571015	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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

Canada English language reference set (foundation metadata concept)

Concept inactivation indicator reference set

GB English

US English

POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

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