FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server  |   User: [n/a]

733422008: Prion protein systemic amyloidosis (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module Reference Sets
3499403010 Prion protein systemic amyloidosis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3499404016 Chronic diarrhoea with hereditary sensory and autonomic neuropathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
3499405015 Prion protein systemic amyloidosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3499406019 PrP (prion protein) systemic amyloidosis en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
3499407011 Chronic diarrhea with hereditary sensory and autonomic neuropathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core US English: Acceptable (foundation metadata concept)
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 Entire term case sensitive (core metadata concept) SNOMED CT core US English: Preferred (foundation metadata concept)
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 Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)

0 descendants.

Expanded Value Set


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

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

Back to Start