Majeed Syndrome

Preferred Label : Majeed Syndrome;

Alternative definition : NICHD: An autoinflammatory disease caused by mutations in the LPIN2 gene. It is characterized by early-onset chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and inflammatory dermatosis.;

Details

Origin ID

C119058;

UMLS CUI

C1864997;

Currated CISMeF NLP mapping
- Chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and neutrophilic dermatosis (disorder) [SNOMED CT concept]
- Majeed syndrome [OMIM Phenotype]
- Majeed syndrome [ORDO Disease]
- Majeed syndrome [MeSH concept]
- Majeed syndrome [ICD-11 More detail]
- Majeed syndrome [Disease (Nov.)]
- Majeed's syndrome [MedDRA Preferred Term]
- majeed syndrome [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and neutrophilic dermatosis (disorder) [SNOMED CT concept]
- Majeed syndrome [ORDO Disease]
- Majeed syndrome [OMIM Phenotype]
- Majeed syndrome [MeSH concept]
- Majeed syndrome [Disease (Nov.)]
- Majeed's syndrome [MedDRA Preferred Term]
- majeed syndrome [MeSH Supplementary Concept]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Pediatric Rheumatology Terminology [NCIt concept]
disease_mapped_to_gene
- LPIN2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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