Term Name: | C1 inhibitor deficiency |
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Synonyms: | Quincke edema |
Definition: | A complement deficiency that is a functional deficiency in the complement component C1 inhibitor leading to hereditary angioedema (HAE) involving swelling due to leakage of fluid from blood vessels into connective tissue. |
Ontology: | Human Disease [DOID:0060002] ( DOID:0060002 ) |