Complement component 7 deficiency

Preferred Label : Complement component 7 deficiency;

Symbol : C7D;

CISMeF acronym : C7D;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : C7 deficiency;

Prefixed ID : #610102;

Détails

Origin ID

610102;

UMLS CUI

C1864694;

Automatic exact mappings (from CISMeF team)
- Immunodeficiency due to a late component of complement deficiency [ORDO Disease]
Broader ORDO disease(s)
- Immunodeficiency due to a late component of complement deficiency [ORDO Disease]
Currated CISMeF NLP mapping
- Complement component C7 deficiency [ICD-11 More detail]
- complement component 7 deficiency [DO Concept]
- complement component 7 deficiency [MeSH concept]
- complement component 7 deficiency [MeSH Supplementary Concept]
DO Cross reference
- complement component 7 deficiency [DO Concept]
Genes related to phenotype
- Complement component 7 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Decreased serum complement C7 [HPO term]
- Recurrent Neisserial infections [HPO term]
- Recurrent meningococcal disease [HPO term]
ORDO concept(s)
- Immunodeficiency due to a late component of complement deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Complement component C7 deficiency [ICD-11 More detail]
- complement component 7 deficiency [MeSH Supplementary Concept]
- complement component 7 deficiency [MeSH concept]
- complement component 7 deficiency [DO Concept]

Position du mot-clé dans l'(les) arborescence(s) :

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