Medical Subject Headings / 医学主题词表

Last uploaded: September 7, 2023
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

63

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

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http://purl.bioontology.org/ontology/ICD10CM/D68.2 International Classification of Diseases, Version 10 - Clinical Modification / 国际疾病分类,第10版-临床修改 CUI
http://purl.bioontology.org/ontology/OMIM/616004 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 CUI
http://purl.bioontology.org/ontology/OMIM/616004 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 LOOM