National Cancer Institute Thesaurus

Last uploaded: February 23, 2024
Preferred Name

Hemophilia A
Synonyms

Hereditary factor VIII deficiency

Hereditary Factor VIII Deficiency Disease

Factor VIII Deficiency

Hereditary Factor VIII Deficiency

Hemophilia A

Definitions

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.

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#C90259

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

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

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

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

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

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

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

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

Contributing_Source

Cellosaurus

CTRP

NICHD

mCode

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 Disease

Factor VIII Deficiency

Hereditary Factor VIII Deficiency

Hemophilia A

label

Hemophilia A

Legacy Concept Name

Hemophilia_A

Preferred_Name

Hemophilia A

prefixIRI

Thesaurus:C27146

Semantic_Type

Disease or Syndrome

UMLS_CUI

C0019069

subClassOf

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

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

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Mapping To Ontology Source
http://purl.bioontology.org/ontology/CSP/0438-6751 CRISP LOOM
http://purl.bioontology.org/ontology/PDQ/CDR0000671393 PDQ LOOM
http://purl.obolibrary.org/obo/MONDO_0010602 MONDO LOOM
http://purl.obolibrary.org/obo/OMIM_306700 CCO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.099.500 RH-MESH LOOM
http://www.phoc.org.cn/pmo/class/PMO_00036578 PMAPP-PMO LOOM
http://nanbyodata.jp/ontology/NANDO_2200676 NANDO LOOM
http://purl.bioontology.org/ontology/CSP/0438-6751 CRISP LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#6005 OCHV LOOM
http://purl.jp/bio/4/id/200906070937309648 IOBC LOOM
http://www.limics.org/hrdo/rdfns#pat_id_13895 HRDO LOOM
http://localhost/plosthes.2017-1#8560 PLOSTHES LOOM
http://purl.bioontology.org/ontology/OMIM/306700 OMIM LOOM
http://purl.bioontology.org/ontology/MEDDRA/10060612 MEDDRA LOOM
http://purl.bioontology.org/ontology/PDQ/CDR0000671393 PDQ LOOM
http://purl.obolibrary.org/obo/NCIT_C27146 BERO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0019069 OCHV LOOM
http://www.orpha.net/ORDO/Orphanet_98878 ORDO LOOM
http://purl.obolibrary.org/obo/MONDO_0010602 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0010602 DOVES LOOM
http://purl.obolibrary.org/obo/MONDO_0010602 EFO LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_12134 NATPRO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Hemophilia_A CSEO LOOM
http://purl.bioontology.org/ontology/MESH/D006467 MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C15.378.463.500 RH-MESH LOOM
http://purl.obolibrary.org/obo/OMIT_0007636 OMIT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C15.378.100.100.500 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D006467 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C15.378.100.141.500 RH-MESH LOOM
http://identifiers.org/omim/306700 REXO LOOM
http://identifiers.org/omim/306700 GEXO LOOM
http://identifiers.org/omim/306700 RETO LOOM