Majeed syndrome

Preferred Label : Majeed syndrome;

Symbol : MJDS;

CISMeF acronym : MJDS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : CRMO1; Chronic recurrent multifocal osteomyelitis 1, with congenital dyserythropoietic anemia, with or without neutrophilic dermatosis;

Prefixed ID : #609628;

Details

Origin ID

609628;

UMLS CUI

C1864997;

Currated CISMeF NLP mapping
- Chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and neutrophilic dermatosis (disorder) [SNOMED CT concept]
- Majeed Syndrome [NCIt concept]
- Majeed syndrome [Disease (Nov.)]
- Majeed syndrome [ICD-11 More detail]
- Majeed syndrome [MeSH concept]
- Majeed syndrome [ORDO Disease]
- Majeed's syndrome [MedDRA Preferred Term]
- majeed syndrome [MeSH Supplementary Concept]
Genes related to phenotype
- Lipin 2 [OMIM gene]
HPO term(s)
- Anemia of inadequate production [HPO term]
- Arthralgia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bone pain [HPO term]
- Decreased mean corpuscular volume [HPO term]
- Delayed puberty [HPO term]
- Delayed skeletal maturation [HPO term]
- Elevated erythrocyte sedimentation rate [HPO term]
- Erythroid hyperplasia [HPO term]
- Failure to thrive [HPO term]
- Flexion contracture [HPO term]
- Growth delay [HPO term]
- Hepatosplenomegaly [HPO term]
- Inflammatory abnormality of the skin [HPO term]
- Joint swelling [HPO term]
- Microcytic anemia [HPO term]
- Osteomyelitis [HPO term]
- Recurrent fever [HPO term]
- Skin rash [HPO term]
ORDO concept(s)
- Majeed syndrome [ORDO Disease]
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 [NCIt concept]
- Majeed syndrome [ORDO Disease]
- Majeed syndrome [MeSH concept]
- Majeed syndrome [Disease (Nov.)]
- Majeed's syndrome [MedDRA Preferred Term]
- majeed syndrome [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients