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733422008: Prion protein systemic amyloidosis (disorder)


Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3499403010 Prion protein systemic amyloidosis (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3499404016 Chronic diarrhoea with hereditary sensory and autonomic neuropathy en Synonym Active Case insensitive SNOMED CT core
3499405015 Prion protein systemic amyloidosis en Synonym Active Case insensitive SNOMED CT core
3499406019 PrP (prion protein) systemic amyloidosis en Synonym Active Case sensitive SNOMED CT core
3499407011 Chronic diarrhea with hereditary sensory and autonomic neuropathy en Synonym Active Case insensitive SNOMED CT core
3499991014 An extremely rare autosomal dominant disorder reported in three British families, a Japanese and an Italian family (about 16 cases in total). Onset is usually in the fourth decade of life and the course lasts about 20 years. Reported clinical manifestations include diarrhea, nausea, autonomic failure (areflexia, weakness), neurogenic bladder and urinary infections. The disorder is caused by truncation mutations of the prion protein gene PRNP (20p13) leading to deposition of prion protein amyloid. en Definition Active Case sensitive SNOMED CT core
3499992019 An extremely rare autosomal dominant disorder reported in three British families, a Japanese and an Italian family (about 16 cases in total). Onset is usually in the fourth decade of life and the course lasts about 20 years. Reported clinical manifestations include diarrhoea, nausea, autonomic failure (areflexia, weakness), neurogenic bladder and urinary infections. The disorder is caused by truncation mutations of the prion protein gene PRNP (20p13) leading to deposition of prion protein amyloid. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Prion protein systemic amyloidosis Is a Hereditary degenerative disease of central nervous system true Inferred relationship Some
Prion protein systemic amyloidosis Associated morphology Amyloid deposition true Inferred relationship Some 1
Prion protein systemic amyloidosis Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Prion protein systemic amyloidosis Is a Prion disease true Inferred relationship Some
Prion protein systemic amyloidosis Is a Systemic amyloidosis true Inferred relationship Some
Prion protein systemic amyloidosis Is a Hereditary disorder of nervous system false Inferred relationship Some
Prion protein systemic amyloidosis Associated morphology Spongy degeneration true Inferred relationship Some 2
Prion protein systemic amyloidosis Causative agent Prion true Inferred relationship Some 2
Prion protein systemic amyloidosis Finding site Brain tissue structure true Inferred relationship Some 2
Prion protein systemic amyloidosis Pathological process Infectious process true Inferred relationship Some 2
Prion protein systemic amyloidosis Is a Hereditary amyloidosis true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Disease caused by microorganism or bacterial toxin reference set

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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