Human Disease Ontology

Last uploaded: November 1, 2024
Preferred Name

sickle cell anemia
Synonyms

Hb-S/Hb-C disease

Hemoglobin S disease without crisis

Hb-SS disease without crisis

hemoglobin SC disease

Hb SC disease

haemoglobin SC disease

sickle cell anaemia

drepanocytosis

HbSS disease

homozygous sickle cell disease

Sickle-cell/Hb-C disease without crisis

Definitions

A sickle cell disease that is characterized by the replacement of both of the beta-globin subunits in hemoglobin with hemoglobin S, resulting in a low number of red blood cells, repeated infections, and periodic episodes of pain. OMIM mapping confirmed by DO. [LS].

ID

http://purl.obolibrary.org/obo/DOID_10923

comment

OMIM mapping confirmed by DO. [LS].

database_cross_reference

ICD9CM:282.6

ICD9CM:282.63

MESH:D006450

UMLS_CUI:C0019034

SNOMEDCT_US_2023_03_01:154798006

SNOMEDCT_US_2023_03_01:35434009

MESH:D000755

UMLS_CUI:C0002895

ICD10CM:D57.2

ICD10CM:D57.1

GARD:8614

NCI:C34383

NCI:C34676

ORDO:232

definition

A sickle cell disease that is characterized by the replacement of both of the beta-globin subunits in hemoglobin with hemoglobin S, resulting in a low number of red blood cells, repeated infections, and periodic episodes of pain.

has exact synonym

Hb-S/Hb-C disease

Hemoglobin S disease without crisis

Hb-SS disease without crisis

hemoglobin SC disease

Hb SC disease

haemoglobin SC disease

sickle cell anaemia

drepanocytosis

HbSS disease

homozygous sickle cell disease

Sickle-cell/Hb-C disease without crisis

has material basis in

http://purl.obolibrary.org/obo/GENO_0000148

http://purl.obolibrary.org/obo/CL_0000232

has_alternative_id

DOID:12924

DOID:13024

has_obo_namespace

disease_ontology

id

DOID:10923

in_subset

http://purl.obolibrary.org/obo/doid#NCIthesaurus

http://purl.obolibrary.org/obo/doid#DO_rare_slim

label

sickle cell anemia

notation

DOID:10923

prefLabel

sickle cell anemia

subClassOf

http://purl.obolibrary.org/obo/DOID_0050737

http://purl.obolibrary.org/obo/DOID_2355

http://purl.obolibrary.org/obo/DOID_0081445

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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_10923 EUPATH SAME_URI
http://purl.obolibrary.org/obo/DOID_10923 CHEAR SAME_URI
http://purl.obolibrary.org/obo/DOID_10923 DTO SAME_URI
http://purl.obolibrary.org/obo/DOID_10923 BAO SAME_URI
http://purl.obolibrary.org/obo/DOID_10923 HHEAR SAME_URI
http://purl.obolibrary.org/obo/DOID_10923 ODAE SAME_URI
http://purl.obolibrary.org/obo/DOID_10923 NIFSTD SAME_URI
http://purl.obolibrary.org/obo/DOID_10923 FNS-H SAME_URI
http://purl.obolibrary.org/obo/MONDO_0011382 MONDO LOOM
http://purl.bioontology.org/ontology/MEDDRA/10054629 MEDDRA LOOM
http://www.owl-ontologies.com/unnamed.owl#RID15050 DERMLEX LOOM
http://purl.obolibrary.org/obo/MONDO_0011382 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0011382 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0011382 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0011382 DOVES LOOM
http://purl.obolibrary.org/obo/MONDO_0011382 KTAO LOOM
http://purl.obolibrary.org/obo/MONDO_0011382 GENEPIO LOOM
http://purl.bioontology.org/ontology/CSP/1418-5709 CRISP LOOM
http://www.semanticweb.org/cjf/ontologies/2022/8/NeuralReprogrammingOntology(NRO)#sickle_cell_anemia NRO LOOM
http://purl.bioontology.org/ontology/MEDDRA/10040653 MEDDRA LOOM
http://www.projecthalo.com/aura#Sickle-Cell-Anemia AURA LOOM
http://purl.obolibrary.org/obo/OMIM_603903 CCO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0002895 OCHV LOOM
http://purl.bioontology.org/ontology/LNC/MTHU021603 LOINC LOOM
http://purl.bioontology.org/ontology/LNC/LP56775-7 LOINC LOOM
http://www.limics.org/hrdo/rdfns#pat_id_125 HRDO LOOM
http://www.radlex.org/RID/RID34676 RADLEX LOOM
http://www.orpha.net/ORDO/Orphanet_232 ORDO LOOM
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0002895 MEDLINEPLUS LOOM
http://identifiers.org/omim/603903 REXO LOOM
http://identifiers.org/omim/603903 GEXO LOOM
http://identifiers.org/omim/603903 RETO LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU054349 OMIM LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_10923 NATPRO LOOM
http://purl.jp/bio/4/id/kb0000001756 IOBC LOOM
http://radlex.org/RID/RID34676 RADLEX LOOM
http://www.ebi.ac.uk/efo/EFO_0000697 CLO LOOM
http://purl.obolibrary.org/obo/DOID_10923 EUPATH LOOM
http://purl.obolibrary.org/obo/DOID_10923 CHEAR LOOM
http://purl.obolibrary.org/obo/DOID_10923 DTO LOOM
http://purl.obolibrary.org/obo/DOID_10923 BAO LOOM
http://purl.obolibrary.org/obo/DOID_10923 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_10923 ODAE LOOM
http://purl.obolibrary.org/obo/DOID_10923 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_10923 FNS-H LOOM