Blau syndrome - CISMeF

Preferred Label : Blau syndrome;

Symbol : BLAUS;

CISMeF acronym : ACUG; BLAUS; EOS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Granulomatous inflammatory arthritis, dermatitis, and uveitis, familial; Granulomatosis, familial juvenile systemic; Granulomatosis, familial, blau type; Arthrocutaneouveal granulomatosis; Jabs syndrome; ACUG; Sarcoidosis, early-onset; EOS;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the nucleotide-binding oligomerization domain protein 2 gene (NOD2, 605956.0004).;

Prefixed ID : #186580;

Details

Origin ID

186580;

UMLS CUI

C5201146;

Automatic exact mappings (from CISMeF team)
- Eosinophil Count [NCIt concept]
- Genus Eos (organism) [SNOMED CT concept]
- sarcoidosis, Early-Onset [MeSH concept]
Currated CISMeF NLP mapping
- Blau Syndrome [NCIt concept]
- Blau syndrome [PASCAL descriptor]
- Blau syndrome [DO Concept]
- Blau syndrome [ICD-11 More detail]
- Blau syndrome [MeSH concept]
- Blau syndrome [MeSH Supplementary Concept]
- Blau syndrome [ORDO Disease]
- Blau syndrome [MedDRA Preferred Term]
- Blau syndrome (disorder) [SNOMED CT concept]
- Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder) [SNOMED CT concept]
- familial juvenile systemic granulomatosis [Disease (Nov.)]
DO Cross reference
- Blau syndrome [DO Concept]
Genes related to phenotype
- Nucleotide-binding oligomerization domain protein 2 [OMIM gene]
HPO term(s)
- Abnormal cranial nerve morphology [HPO term]
- Abnormality of the ear [HPO term]
- Arthritis [HPO term]
- Autosomal dominant inheritance [HPO term]
- Band keratopathy [HPO term]
- Camptodactyly of finger [HPO term]
- Cataract [HPO term]
- Cystoid macular edema [HPO term]
- Eczema [HPO term]
- Erythema nodosum [HPO term]
- Flexion contracture of toe [HPO term]
- Flexion contractures of fingers and toes [HPO term]
- Flexion contractures of the toes [HPO term]
- Glaucoma [HPO term]
- Hypertension [HPO term]
- Intermittent generalized erythematous papular rash [HPO term]
- Iritis [HPO term]
- Joint swelling [HPO term]
- Nongranulomatous uveitis [HPO term]
- Pericarditis [HPO term]
- Skin ulcer [HPO term]
- Synovitis [HPO term]
- Tendonitis [HPO term]
- Uveitis [HPO term]
ORDO concept(s)
- Blau syndrome [ORDO Disease]
See also inter- (CISMeF)
- NOD2 wt Allele [NCIt 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 [MeSH Supplementary Concept]
- Blau syndrome [MeSH concept]
- Blau syndrome [ORDO Disease]
- Blau syndrome [DO Concept]
- Blau syndrome [PASCAL descriptor]
- 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
- Early-onset sarcoidosis [ICD-11 More detail]
- Sporadic Blau syndrome (disorder) [SNOMED CT concept]

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