Preferred Name

Hemophilia A

ID

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C27146

ALT_DEFINITION

An X-linked recessive deficiency of coagulation factor VIII characterized by a tendency to bleed. Hemophilia A, the most common type of hemophilia, occurs in approximately 1 in 4,000 to 1 in 5,000 live male births.

code

C27146

Concept_In_Subset

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C116977

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C193006

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C193181

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C118168

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C192842

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C165258

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C90259

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C99147

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C132009

Contributing_Source

NICHD

mCode

CTRP

Cellosaurus

DEFINITION

An inherited deficiency of coagulation factor VIII characterized by the tendency to spontaneous or exaggerated post-traumatic hemorrhage. Inherited as an X-linked recessive disease, hemophilia A is the most common hemophilia, occurring in approximately 1 in 10,000 male births.

Display_Name

Hemophilia A

FULL_SYN

Hereditary Factor VIII Deficiency

Hereditary factor VIII deficiency

Hemophilia A

Hereditary Factor VIII Deficiency Disease

Factor VIII Deficiency

label

Hemophilia A

Legacy Concept Name

Hemophilia_A

Preferred_Name

Hemophilia A

prefixIRI

Thesaurus:C27146

prefLabel

Hemophilia A

Semantic_Type

Disease or Syndrome

UMLS_CUI

C0019069

subClassOf

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C3093

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C98942

Delete Subject Author Type Created
No notes to display
Create New Mapping

Delete Mapping To Ontology Source
http://www.orpha.net/ORDO/Orphanet_98878 Orphanet Rare Disease Ontology / Orphanet罕见病本体 LOOM
http://purl.bioontology.org/ontology/OMIM/306700 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 LOOM
http://purl.obolibrary.org/obo/MONDO_0010602 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0010602 Experimental Factor Ontology / 实验性因素本体 LOOM
http://purl.bioontology.org/ontology/MESH/D006467 Medical Subject Headings / 医学主题词表 LOOM