Blau Syndrome - CISMeF

Preferred Label : Blau Syndrome;

NCIt related terms : Pediatric Granulomatous Arthritis;

NCIt definition : An autoinflammatory disease caused by a NOD2 gene mutation, usually presenting in children younger than age four, and characterized by granulomatous dermatitis, arthritis with synovitis, and uveitis.;

Details

Origin ID

C116794;

UMLS CUI

C5201146;

Automatic exact mappings (from CISMeF team)
- Granulomatous arthritis of childhood [ORDO Disease]
Currated CISMeF NLP mapping
- Blau syndrome [DO Concept]
- Blau syndrome [MeSH concept]
- Blau syndrome [MeSH Supplementary Concept]
- Blau syndrome [ORDO Disease]
- Blau syndrome [PASCAL descriptor]
- Blau syndrome [OMIM Phenotype]
- Blau syndrome [MedDRA Preferred Term]
- Blau syndrome [ICD-11 More detail]
- Blau syndrome (disorder) [SNOMED CT concept]
- Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder) [SNOMED CT concept]
DO Cross reference
- Blau syndrome [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Blau syndrome [ORDO Disease]
- Blau syndrome [PASCAL descriptor]
- Blau syndrome [DO Concept]
- Blau syndrome [OMIM Phenotype]
- Blau syndrome [MeSH Supplementary Concept]
- Blau syndrome [MeSH concept]
- Blau syndrome [MedDRA Preferred Term]
- Blau syndrome (disorder) [SNOMED CT concept]
- 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]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Pediatric Rheumatology Terminology [NCIt concept]
disease_mapped_to_gene
- NOD2 Gene [NCIt concept]
related_to_genetic_biomarker
- NOD1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

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