733422008: Prion protein systemic amyloidosis (disorder)

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\maladie infectieuse de l'encéphale\maladie à prion\Prion protein systemic amyloidosis (disorder)
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\Degenerative brain disorder\maladie à prion\Prion protein systemic amyloidosis (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Infectious disease of central nervous system\maladie infectieuse de l'encéphale\maladie à prion\Prion protein systemic amyloidosis (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\maladie infectieuse de l'encéphale\maladie à prion\Prion protein systemic amyloidosis (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\maladie à prion\Prion protein systemic amyloidosis (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\maladie dégénérative du système nerveux central\Hereditary degenerative disease of central nervous system\Prion protein systemic amyloidosis (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\maladie dégénérative du système nerveux central\Degenerative brain disorder\maladie à prion\Prion protein systemic amyloidosis (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\...
• \constatation à propos l'encéphale\Disorder of brain (disorder)\...
• \maladie infectieuse de l'encéphale\maladie à prion\Prion protein systemic amyloidosis (disorder)
• \Degenerative brain disorder\maladie à prion\Prion protein systemic amyloidosis (disorder)
• \affection de la tête\trouble infectieux de la tête\maladie infectieuse de l'encéphale\maladie à prion\Prion protein systemic amyloidosis (disorder)
• \affection de la tête\Disorder of brain (disorder)\maladie infectieuse de l'encéphale\maladie à prion\Prion protein systemic amyloidosis (disorder)
• \affection de la tête\Disorder of brain (disorder)\Degenerative brain disorder\maladie à prion\Prion protein systemic amyloidosis (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary amyloidosis (disorder)\Prion protein systemic amyloidosis (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Prion protein systemic amyloidosis (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Prion protein systemic amyloidosis (disorder)
• \Disease\affection dégénérative\maladie dégénérative du système nerveux central\Hereditary degenerative disease of central nervous system\Prion protein systemic amyloidosis (disorder)
• \Disease\affection dégénérative\maladie dégénérative du système nerveux central\Degenerative brain disorder\maladie à prion\Prion protein systemic amyloidosis (disorder)
• \Disease\affection dégénérative\Amyloidosis\Hereditary amyloidosis (disorder)\Prion protein systemic amyloidosis (disorder)
• \Disease\affection dégénérative\Amyloidosis\Systemic amyloidosis\Prion protein systemic amyloidosis (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Prion protein systemic amyloidosis (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Prion protein systemic amyloidosis (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Infectious disease of nervous system\Infectious disease of central nervous system\maladie infectieuse de l'encéphale\maladie à prion\Prion protein systemic amyloidosis (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Infectious disease of central nervous system\maladie infectieuse de l'encéphale\maladie à prion\Prion protein systemic amyloidosis (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\maladie infectieuse de l'encéphale\maladie à prion\Prion protein systemic amyloidosis (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\maladie à prion\Prion protein systemic amyloidosis (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\maladie dégénérative du système nerveux central\Hereditary degenerative disease of central nervous system\Prion protein systemic amyloidosis (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\maladie dégénérative du système nerveux central\Degenerative brain disorder\maladie à prion\Prion protein systemic amyloidosis (disorder)
• \Disease\affection de la tête\trouble infectieux de la tête\maladie infectieuse de l'encéphale\maladie à prion\Prion protein systemic amyloidosis (disorder)
• \Disease\affection de la tête\Disorder of brain (disorder)\maladie infectieuse de l'encéphale\maladie à prion\Prion protein systemic amyloidosis (disorder)
• \Disease\affection de la tête\Disorder of brain (disorder)\Degenerative brain disorder\maladie à prion\Prion protein systemic amyloidosis (disorder)
• \Disease\maladie systémique\Systemic amyloidosis\Prion protein systemic amyloidosis (disorder)
• \Disease\maladie infectieuse\trouble infectieux de la tête\maladie infectieuse de l'encéphale\maladie à prion\Prion protein systemic amyloidosis (disorder)
• \Disease\maladie infectieuse\Infectious disease of nervous system\Infectious disease of central nervous system\maladie infectieuse de l'encéphale\maladie à prion\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
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

This concept is not in any reference sets

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