An inherited blood disorder characterized by a decreased synthesis of one of the polypeptide chains that form hemoglobin. Anemia results from this abnormal hemoglobin formation. [ NCIT:P378 ]
Synonyms: sickle-cell thalassemia without crisis sickle-cell thalassemia with crisis thalassemia Hb-S disease without crisis thalassemia Hb-S disease with crisis
Term information
- SCTID:40108008 (MONDO:equivalentTo)
- GARD:7756 (MONDO:GARD)
- NANDO:2200626 (https://orcid.org/0000-0003-0011-764X)
- MESH:D013789 (MONDO:equivalentTo)
- NCIT:C35069 (MONDO:equivalentTo)
- DOID:10241 (MONDO:equivalentTo)
- ICD10CM:D56 (MONDO:equivalentTo)
- UMLS:C0039730 (MONDO:equivalentTo)
- MEDGEN:21121 (MONDO:equivalentTo)
- EFO:1001996 (MONDO:equivalentTo)
- ICD9:282.49 (MONDO:relatedTo)
- ICD9:282.40 (DOID:10241)
- ICD9:282.4 (MONDO:i2s)
gard_rare, matrix_llm__is_cancer_other, matrix_llm__is_glucose_dysfunction_other, matrix_excluded, otar, mondo_top_grouping_hematologic_disorder, matrix_llm__tag_qualy_lost_other, matrix_llm__medical_specialization_other, matrix_llm__txgnn_other, mondo_top_grouping_member, mondo_top_grouping_hereditary_disease, nord_rare, matrix_llm__tag_existing_treatment_other, matrix_txgnn_grouping_other, matrix_llm__anatomical_other, matrix_llm__is_pathogen_caused_other, harrisons_view_hematologic_disorder, rare, harrisons_view_member, harrisons_view_hereditary_disease
http://purl.bioontology.org/ontology/ICD10CM/D56
http://linkedlifedata.com/resource/umls/id/C0039730
http://purl.obolibrary.org/obo/DOID_10241
http://identifiers.org/medgen/21121
http://purl.obolibrary.org/obo/NCIT_C35069
http://www.ebi.ac.uk/efo/EFO_1001996
http://identifiers.org/mesh/D013789
http://identifiers.org/snomedct/40108008