MASP2 deficiency

Preferred Label : MASP2 deficiency;

MeSH note : mutation in MASP2;

Origin ID

C565360;

UMLS CUI

C3151085;

CISMeF manual mappings
- Immunodeficiency with MASP-2 deficiency [ICD-11 More detail]
Currated CISMeF NLP mapping
- Immunodeficiency due to MASP-2 deficiency [ORDO Disease]
- Immunodeficiency due to mannan binding lectin serine peptidase 2 deficiency (disorder) [SNOMED CT concept]
- Masp2 deficiency [OMIM Phenotype]
MeSH term(s) associated for indexing
- Hereditary Complement Deficiency Diseases [MeSH Descriptor]
- immunologic deficiency syndromes [MeSH Descriptor]
- mannose-binding protein-associated serine proteases [MeSH Descriptor]
Record concept(s)
- MASP2 deficiency [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Immunodeficiency due to MASP-2 deficiency [ORDO Disease]
- Immunodeficiency with MASP-2 deficiency [ICD-11 More detail]
- Masp2 deficiency [OMIM Phenotype]