Blau syndrome - CISMeF

Preferred Label : Blau syndrome;

MeSH synonym : granulomatosis, familial juvenile systemic; granulomatous inflammatory arthritis, dermatitis, and uveitis, familial; jabs syndrome; arthrocutaneouveal granulomatosis; granulomatosis, familial, blau type; synovitis, granulomatous, with uveitis and cranial neuropathies; pediatric granulomatous arthritis; Early-Onset sarcoidosis; familial granulomatosis, blau type; familial juvenile systemic granulomatosis; Synovitis granulomatous with uveitis and cranial neuropathies;

Details

Origin ID

C538157;

UMLS CUI

C1861303;

Automatic exact mappings (from CISMeF team)
- Early-onset sarcoidosis [ICD-11 More detail]
- Granulomatous arthritis of childhood [ORDO Disease]
Currated CISMeF NLP mapping
- Blau Syndrome [NCIt concept]
- Blau syndrome [MedDRA Preferred Term]
- Blau syndrome [PASCAL descriptor]
- Blau syndrome [DO Concept]
- Blau syndrome [ICD-11 More detail]
- Blau syndrome [OMIM Phenotype]
- Blau syndrome [ORDO Disease]
- Blau syndrome (disorder) [SNOMED CT concept]
- Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder) [SNOMED CT concept]
- familial juvenile systemic granulomatosis [Disease (Nov.)]
MeSH term(s) associated for indexing
- arthritis [MeSH Descriptor]
- cranial nerve diseases [MeSH Descriptor]
- hereditary autoinflammatory diseases [MeSH Descriptor]
- sarcoidosis [MeSH Descriptor]
- synovitis [MeSH Descriptor]
- uveitis [MeSH Descriptor]
Record concept(s)
- Blau syndrome [MeSH concept]
- sarcoidosis, Early-Onset [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Blau Syndrome [NCIt concept]
- Blau syndrome [MedDRA Preferred Term]
- Blau syndrome [OMIM Phenotype]
- Blau syndrome [ORDO Disease]
- Blau syndrome [DO Concept]
- Blau syndrome [PASCAL descriptor]
- Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder) [SNOMED CT concept]
- Sporadic Blau syndrome (disorder) [SNOMED CT concept]
- familial juvenile systemic granulomatosis [Disease (Nov.)]
Validated automatic mappings to BTNT
- Sporadic Blau syndrome (disorder) [SNOMED CT concept]

Keyword's position in hierarchy(ies) :

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