High Molecular Weight Kininogen Deficiency

Preferred Label : High Molecular Weight Kininogen Deficiency;

NCIt definition : A rare autosomal recessive inherited disorder characterized by prolonged partial thromboplastin time and absence of bleeding diathesis.;

Alternative definition : NICHD: 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.;

Details

Origin ID

C98946;

UMLS CUI

C0272340;

Automatic exact mappings (from CISMeF team)
- high molecular weight kininogen deficiency [DO Concept]
Currated CISMeF NLP mapping
- Flaujeac factor deficiency [MeSH concept]
- High molecular weight kininogen deficiency [OMIM Phenotype]
- High molecular weight kininogen deficiency [HPO term]
- High molecular weight kininogen deficiency (disorder) [SNOMED CT concept]
- flaujeac factor deficiency [MeSH Supplementary Concept]
- high molecular weight kininogen deficiency [SNOMED Notion]
DO Cross reference
- high molecular weight kininogen deficiency [DO Concept]
Has associated anatomic sites
- Hematopoietic and Lymphatic System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital high-molecular-weight kininogen deficiency [ORDO Disease]
- Flaujeac factor deficiency [MeSH concept]
- High molecular weight kininogen deficiency [OMIM Phenotype]
- High molecular weight kininogen deficiency [HPO term]
- High molecular weight kininogen deficiency (disorder) [SNOMED CT concept]
- Reduced kininogen activity [HPO term]
- flaujeac factor deficiency [MeSH Supplementary Concept]
- high molecular weight kininogen deficiency [SNOMED Notion]
- high molecular weight kininogen deficiency [DO Concept]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
- Pediatric Hematology-Oncology Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_has_normal_cell_origin
- Hematopoietic and Lymphoid Cell [NCIt concept]
disease_has_normal_tissue_origin
- Hematopoietic and Lymphoid Tissue [NCIt concept]
disease_has_primary_anatomic_site
- Hematopoietic and Lymphatic System [NCIt concept]
disease_mapped_to_gene
- KNG1 Gene [NCIt concept]

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