complement factor H deficiency

Preferred Label : complement factor H deficiency;

MeSH note : mutation in CFH;

MeSH synonym : factor H deficiency; CFH deficiency; Membranoproliferative Glomerulonephritis, Type II, With Complement Factor H Deficiency; Glomerulonephritis With Isolated C3 Deposits And Factor H Deficiency; MPGN II with Complement Factor H Deficiency; C3G-1 Complement 3 Glomerulopathy 1; C3G1 C3 glomerulopathy 1;

Details

Origin ID

C562875;

UMLS CUI

C0398777;

Automatic exact mappings (from CISMeF team)
- Factor H deficiency (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Complement factor h deficiency [OMIM Phenotype]
- Immunodeficiency with factor H anomaly [ICD-11 More detail]
- Immunodeficiency with factor H anomaly [ORDO Disease]
MeSH term(s) associated for indexing
- Hereditary Complement Deficiency Diseases [MeSH Descriptor]
- complement factor h [MeSH Descriptor]
- glomerulonephritis, membranoproliferative [MeSH Descriptor]
- kidney diseases [MeSH Descriptor]
Record concept(s)
- complement factor H deficiency [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Complement factor h deficiency [OMIM Phenotype]
- Factor H deficiency (disorder) [SNOMED CT concept]
- Immunodeficiency with factor H anomaly [ORDO Disease]
- Immunodeficiency with factor H anomaly [ICD-11 More detail]

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