733422008: systemische amyloïdose door prioneiwitmutatie (aandoening)

SNOMED CT Concept\Clinical finding (finding)\...

\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Infectious disease of brain\Prion disease\Prion protein systemic amyloidosis (disorder)
\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Degenerative brain disorder\Prion disease\Prion protein systemic amyloidosis (disorder)
\Head finding (finding)\Disorder of head (disorder)\Infective disorder of head\Infectious disease of brain\Prion disease\Prion protein systemic amyloidosis (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Infectious disease of brain\Prion disease\Prion protein systemic amyloidosis (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Prion disease\Prion protein systemic amyloidosis (disorder)

\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Infectious disease of brain\Prion disease\Prion protein systemic amyloidosis (disorder)
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Degenerative brain disorder\Prion disease\Prion protein systemic amyloidosis (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Infectious disease of central nervous system\Infectious disease of brain\Prion disease\Prion protein systemic amyloidosis (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Infectious disease of brain\Prion disease\Prion protein systemic amyloidosis (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Prion disease\Prion protein systemic amyloidosis (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Prion protein systemic amyloidosis (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Degenerative brain disorder\Prion disease\Prion protein systemic amyloidosis (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary amyloidosis (disorder)\Prion protein systemic amyloidosis (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Prion protein systemic amyloidosis (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Prion protein systemic amyloidosis (disorder)
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Prion protein systemic amyloidosis (disorder)
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Degenerative brain disorder\Prion disease\Prion protein systemic amyloidosis (disorder)
\Disease\Degenerative disorder\Amyloidosis\Hereditary amyloidosis (disorder)\Prion protein systemic amyloidosis (disorder)
\Disease\Degenerative disorder\Amyloidosis\Systemic amyloidosis\Prion protein systemic amyloidosis (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Prion protein systemic amyloidosis (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Prion protein systemic amyloidosis (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Infectious disease of nervous system\Infectious disease of central nervous system\Infectious disease of brain\Prion disease\Prion protein systemic amyloidosis (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Infectious disease of central nervous system\Infectious disease of brain\Prion disease\Prion protein systemic amyloidosis (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Infectious disease of brain\Prion disease\Prion protein systemic amyloidosis (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Prion disease\Prion protein systemic amyloidosis (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Prion protein systemic amyloidosis (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Degenerative brain disorder\Prion disease\Prion protein systemic amyloidosis (disorder)
\Disease\Disorder of head (disorder)\Infective disorder of head\Infectious disease of brain\Prion disease\Prion protein systemic amyloidosis (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Infectious disease of brain\Prion disease\Prion protein systemic amyloidosis (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Prion disease\Prion protein systemic amyloidosis (disorder)
\Disease\Systemic disease\Systemic amyloidosis\Prion protein systemic amyloidosis (disorder)
\Disease\Infectious disease\Infective disorder of head\Infectious disease of brain\Prion disease\Prion protein systemic amyloidosis (disorder)
\Disease\Infectious disease\Infectious disease of nervous system\Infectious disease of central nervous system\Infectious disease of brain\Prion disease\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

3499403010 Prion protein systemic amyloidosis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

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

3499405015 Prion protein systemic amyloidosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3499406019 PrP (prion protein) systemic amyloidosis en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

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

6189691000146116 systemische amyloïdose door prioneiwitmutatie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6189701000146116 systemische amyloïdose door prioneiwitmutatie (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core 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

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

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	false	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
Prion protein systemic amyloidosis (disorder)	Finding site	Brain structure	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3499403010	Prion protein systemic amyloidosis (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
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
3499405015	Prion protein systemic amyloidosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3499406019	PrP (prion protein) systemic amyloidosis	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
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
6189691000146116	systemische amyloïdose door prioneiwitmutatie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6189701000146116	systemische amyloïdose door prioneiwitmutatie (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core 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
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