Blau syndrome - CISMeF

Preferred Label : Blau syndrome;

ICD-11 definition : Blau syndrome is a monogenic dominant autoinflammatory disease associated with mutations in a gene called NOD2 (previous symbol CARD15) [Micelli-Richard, nature genetics, 2001];

ICD-11 synonym : Caspase recruitment domain-containing protein 15 deficiency; CARD15 - [Caspase recruitment domain-containing protein 15] deficiency; Jab syndrome; CARD15 deficiency; Paediatric granulomatous arthritis; Familial juvenile sarcoidosis;

Details

Origin ID

382488319;

Currated CISMeF NLP mapping
- Blau Syndrome [NCIt concept]
- Blau syndrome [DO Concept]
- Blau syndrome [MeSH Supplementary Concept]
- Blau syndrome [MeSH concept]
- Blau syndrome [ORDO Disease]
- Blau syndrome [OMIM Phenotype]
- Blau syndrome [PASCAL descriptor]
- Blau syndrome [MedDRA Preferred Term]
- Blau syndrome (disorder) [SNOMED CT concept]
- Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder) [SNOMED CT concept]

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