Medical Subject Headings

Last uploaded: November 5, 2019
Jump to:
Spinner 000000 16px loading...
Preferred Name

Dysfibrinogenemia, Congenital
ID

http://purl.bioontology.org/ontology/MESH/C562727
cui

C0272350
HM

D000347
Inverse of RB

0
Mapped to

http://purl.bioontology.org/ontology/MESH/D000347
MDA

20121105
MeSH Frequency

39
MMR

20150818
notation

C562727
prefLabel

Dysfibrinogenemia, Congenital
SC

3
Scope Statement

A hereditary, usually autosomal dominant disorder that affects the quality of circulating FIBRINOGEN. About half of patients are asymptomatic, and half have an increased tendency for bleeding, THROMBOSIS, or both. Mutations in the FGA and FGB genes have been identified. OMIM: 616004
TERMUI

T801383
TH

OMIM (2013)
tui

T047
Add comment
Add proposal
Delete Subject Author Type Created
No notes to display
Create New Mapping

Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/ICD10CM/D68.2 International Classification of Diseases, Version 10 - Clinical Modification CUI
http://purl.bioontology.org/ontology/OMIM/616004 Online Mendelian Inheritance in Man CUI
http://purl.bioontology.org/ontology/OMIM/616004 Online Mendelian Inheritance in Man LOOM