Complement component 6 deficiency

Preferred Label : Complement component 6 deficiency;

Symbol : C6D;

CISMeF acronym : C6D;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : C6 deficiency;

Included titles and symbols : Complement component 6 deficiency, subtotal; C6 deficiency, subtotal;

Prefixed ID : #612446;

Details

Origin ID

612446;

UMLS CUI

C2676232;

Automatic exact mappings (from CISMeF team)
- C6 deficiency, subtotal [MeSH Supplementary Concept]
- C6 deficiency, subtotal [MeSH concept]
- 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 C6 deficiency [ICD-11 More detail]
- complement component 6 deficiency [DO Concept]
- complement component 6 deficiency [MeSH concept]
- complement component 6 deficiency [MeSH Supplementary Concept]
DO Cross reference
- complement component 6 deficiency [DO Concept]
Genes related to phenotype
- Complement component 6 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Decreased serum complement C6 [HPO term]
- Recurrent meningococcal disease [HPO term]
- Reduced hemolytic complement activity [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 C6 deficiency [ICD-11 More detail]
- complement component 6 deficiency [MeSH Supplementary Concept]
- complement component 6 deficiency [MeSH concept]
- complement component 6 deficiency [DO Concept]

Keyword's position in hierarchy(ies) :

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