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 |
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