Human Disease Ontology 123

Last uploaded: September 28, 2023
Preferred Name

thalassemia

Synonyms

Sickle-cell thalassemia with crisis

Definitions

A hemolytic anemia characterized by decreased synthesis of one or more hemoglobin polypeptide chains. OMIM mapping confirmed by DO. [LS].

ID

http://purl.obolibrary.org/obo/DOID_10241

comment

OMIM mapping confirmed by DO. [LS].

database_cross_reference

ICD9CM:282.4

MESH:D013789

NCI:C35069

UMLS_CUI:C0039730

GARD:7756

SNOMEDCT_US_2022_09_01:191192008

ICD10CM:D56

definition

A hemolytic anemia characterized by decreased synthesis of one or more hemoglobin polypeptide chains.

has exact synonym

Sickle-cell thalassemia with crisis

thalassemia Hb-S disease without crisis

Sickle-cell thalassemia without crisis

thalassemia Hb-S disease with crisis

has material basis in

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

has_alternative_id

DOID:12242

DOID:12243

has_obo_namespace

disease_ontology

id

DOID:10241

in_subset

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

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

label

thalassemia

notation

DOID:10241

prefLabel

thalassemia

subClassOf

http://purl.obolibrary.org/obo/DOID_583

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

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http://purl.bioontology.org/ontology/MESH/D013789 Medical Subject Headings LOOM
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0039730 MedlinePlus Health Topics LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C35069 National Cancer Institute Thesaurus LOOM
http://purl.bioontology.org/ontology/ICD10CM/D56 International Classification of Diseases, Version 10 - Clinical Modification LOOM