Terminology Service for NFDI4Health

High Molecular Weight Kininogen Deficiency

Go to external page http://purl.obolibrary.org/obo/NCIT_C98946


A rare autosomal recessive inherited disorder characterized by prolonged partial thromboplastin time and absence of bleeding diathesis. [ ]

Term info

Label

High Molecular Weight Kininogen Deficiency

Synonyms
  • High Molecular Weight Kininogen Deficiency
Subsets

NCIT_C99147, NCIT_C90259, NCIT_C132009

ALT DEFINITION

An autosomal recessive, inherited disorder characterized by deficiency of high molecular weight kininogen. Its clinical features include prolonged partial thromboplastin time and absence of bleeding diathesis.

Has NICHD Parent

http://purl.obolibrary.org/obo/NCIT_C2902, http://purl.obolibrary.org/obo/NCIT_C27215, http://purl.obolibrary.org/obo/NCIT_C104003, http://purl.obolibrary.org/obo/NCIT_C34816

NICHD Hierarchy Term

High Molecular Weight Kininogen Deficiency

Preferred Name

High Molecular Weight Kininogen Deficiency

Semantic Type

Disease or Syndrome

UMLS CUI

C0272340

code

C98946