Complement component c1r/c1s deficiency

Preferred Label : Complement component c1r/c1s deficiency;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : C1r/c1s deficiency;

Inheritance : Autosomal recessive;

Prefixed ID : %216950;

Details

Origin ID

216950;

UMLS CUI

C3150274;

Automatic exact mappings (from CISMeF team)
- Immunodeficiency due to a classical component pathway complement deficiency [ORDO Disease]
Currated CISMeF NLP mapping
- C1r/C1s Deficiency [NCIt concept]
- Complement component C1r/C1s deficiency [ICD-11 More detail]
HPO term(s)
- Arthralgia [HPO term]
- Arthritis [HPO term]
- Autoimmunity [HPO term]
- Autosomal recessive inheritance [HPO term]
- Complement deficiency [HPO term]
- Discoid lupus rash [HPO term]
- Nephritis [HPO term]
- Recurrent bronchitis [HPO term]
ORDO concept(s)
- Immunodeficiency due to a classical component pathway complement deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- C1r/C1s Deficiency [NCIt concept]
- Complement component C1r/C1s deficiency [ICD-11 More detail]

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