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783161005: Familial dementia British type (disorder)


Status: current, Primitive. Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3757895010 Familial dementia British type (disorder) en Fully specified name Active Initial character case insensitive SNOMED CT core
3757896011 Familial dementia British type en Synonym Active Initial character case insensitive SNOMED CT core
3757897019 ABri amyloidosis en Synonym Active Case sensitive SNOMED CT core
3896360018 Familial British dementia with amyloid angiopathy en Synonym Active Initial character case insensitive SNOMED CT core
3757898012 A rare neurodegenerative disease with characteristics of progressive cognitive impairment, spastic tetraparesis and cerebellar ataxia resulting from amyloid deposits in the brain. Spasticity with increased deep tendon reflexes and tone are early symptoms, muscular rigidity evolves later. Progressive mental deterioration usually starts with apathy and impaired memory with progression to complete disorientation. Caused by heterozygous mutation in the ITM2B gene on chromosome 13q14. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
ABri amyloidosis Is a Chronic disease of cardiovascular system false Inferred relationship Some
ABri amyloidosis Is a Autosomal dominant hereditary disorder false Inferred relationship Some
ABri amyloidosis Associated morphology Amyloid deposition true Inferred relationship Some 1
ABri amyloidosis Is a Cerebral amyloid angiopathy false Inferred relationship Some
ABri amyloidosis Finding site Cerebrovascular system structure false Inferred relationship Some 1
ABri amyloidosis Is a Hereditary amyloidosis false Inferred relationship Some
ABri amyloidosis Is a Chronic metabolic disorder false Inferred relationship Some
ABri amyloidosis Is a Cardiovascular system hereditary disorder false Inferred relationship Some
ABri amyloidosis Clinical course Progressive true Inferred relationship Some 2
ABri amyloidosis Causative agent Amyloid beta peptide true Inferred relationship Some 1
ABri amyloidosis Is a Dementia false Inferred relationship Some
ABri amyloidosis Is a Chronic organic mental disorder false Inferred relationship Some
ABri amyloidosis Interprets Cognitive functions true Inferred relationship Some 3
ABri amyloidosis Has interpretation Impaired true Inferred relationship Some 3
ABri amyloidosis Is a Intracerebral vascular finding false Inferred relationship Some
ABri amyloidosis Is a Vascular degeneration false Inferred relationship Some
ABri amyloidosis Is a Hereditary degenerative disease of central nervous system false Inferred relationship Some
ABri amyloidosis Is a Degenerative brain disorder false Inferred relationship Some
ABri amyloidosis Finding site Vascular structure within brain true Inferred relationship Some 1
ABri amyloidosis Associated morphology Amyloid deposition true Inferred relationship Some 4
ABri amyloidosis Causative agent Amyloid beta peptide true Inferred relationship Some 4
ABri amyloidosis Finding site Structure of parenchyma of brain true Inferred relationship Some 4
ABri amyloidosis Is a ITM2B-related amyloidosis true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Mental health disorder reference set

Cardiovascular finding reference set

Problem/Diagnosis reference set

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