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718221007: Behr syndrome (disorder)

Status: retired, Primitive. 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 Case sensitive SNOMED CT core

3310359015 Behr syndrome en Synonym Active Case sensitive SNOMED CT core

3311570019 Infantile hereditary optic atrophy with neurological abnormality en Synonym Active Case insensitive 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 Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Behr syndrome	Is a	Optic atrophy	false	Inferred relationship	Some
Behr syndrome	Is a	Autosomal recessive hereditary disorder	false	Inferred relationship	Some
Behr syndrome	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Some
Behr syndrome	Is a	Hereditary disorder of the visual system	false	Inferred relationship	Some
Behr syndrome	Associated morphology	Atrophy	false	Inferred relationship	Some	1
Behr syndrome	Occurrence	Infancy	false	Inferred relationship	Some	1
Behr syndrome	Finding site	Optic nerve structure	false	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Concept inactivation indicator reference set

Description inactivation indicator reference set

POSSIBLY EQUIVALENT TO association reference set

Back to Start

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