loading...| Preferred Name |
beta-Thalassemia |
|
| Synonyms |
Disease, Hemoglobin F |
|
| Definitions |
A disorder characterized by reduced synthesis of the beta chains of hemoglobin. There is retardation of hemoglobin A synthesis in the heterozygous form (thalassemia minor), which is asymptomatic, while in the homozygous form (thalassemia major, Cooley's anemia, Mediterranean anemia, erythroblastic anemia), which can result in severe complications and even death, hemoglobin A synthesis is absent. |
|
| ID |
http://purl.bioontology.org/ontology/MESH/D017086 |
|
| altLabel |
Disease, Hemoglobin F Intermedia, Thalassemia beta Type Thalassemias Type Microcytemias, beta Cooley's Anemia Type Thalassemias, beta Thalassemia Minor (beta Thalassemia Minor) Minors, Thalassemia (beta-Thalassemia Minor) Thalassemia Intermedia Anemia, Cooley's Thalassemia, beta Type Thalassemia Major (beta-Thalassemia Major) Anemia, Cooleys Mediterranean Anemias Type Thalassemia, beta Mediterranean Anemia Erythroblastic Anemia Minor, Thalassemia (beta-Thalassemia Minor) Thalassemia, beta Microcytemia, beta Type Microcytemias, beta Type Thalassemias, beta Thalassemia Minors (beta-Thalassemia Minor) Thalassemia Major (beta Thalassemia Major) beta Thalassemias Majors, Thalassemia (beta-Thalassemia Major) Anemias, Erythroblastic beta Type Microcytemias Major, Thalassemia (beta-Thalassemia Major) Type Microcytemia, beta beta Type Thalassemia Anemia, Erythroblastic beta Thalassemia Thalassemia Major Anemia, Cooley Thalassemia Majors (beta-Thalassemia Major) beta Type Microcytemia Anemia, Mediterranean Hemoglobin F Disease Anemias, Mediterranean Thalassemia Intermedias Thalassemia Minor Thalassemia Minor (beta-Thalassemia Minor) Intermedias, Thalassemia Thalassemias, beta Type |
|
| AN |
delta-beta thalassemia = DELTA-THALASSEMIA + BETA-THALASSEMIA |
|
| AQL |
BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI |
|
| cui |
C0271979 C0085578 C0005283 C0002875 C0019025 |
|
| DC |
1 |
|
| definition |
A disorder characterized by reduced synthesis of the beta chains of hemoglobin. There is retardation of hemoglobin A synthesis in the heterozygous form (thalassemia minor), which is asymptomatic, while in the homozygous form (thalassemia major, Cooley's anemia, Mediterranean anemia, erythroblastic anemia), which can result in severe complications and even death, hemoglobin A synthesis is absent. |
|
| DX |
19930101 |
|
| HN |
93; was see THALASSEMIA 1988-92; ANEMIA, ERYTHROBLASTIC was see THALASSEMIA 1965-92, was heading 1963-64; ANEMIA, COOLEY'S was see THALASSEMIA 1963-92; ANEMIA, MEDITERRANEAN was see THALASSEMIA 1965-92; HEMOGLOBIN F DISEASE & THALASSEMIA MAJOR were see THALASSEMIA 1988-92 |
|
| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 |
|
| Machine permutation |
93; was see THALASSEMIA 1988-92; ANEMIA, ERYTHROBLASTIC was see THALASSEMIA 1965-92, was heading 1963-64; ANEMIA, COOLEY'S was see THALASSEMIA 1963-92; ANEMIA, MEDITERRANEAN was see THALASSEMIA 1965-92; HEMOGLOBIN F DISEASE & THALASSEMIA MAJOR were see THALASSEMIA 1988-92 |
|
| Mapped from |
http://purl.bioontology.org/ontology/MESH/C562716 http://purl.bioontology.org/ontology/MESH/C564050 |
|
| MDA |
19920507 |
|
| MMR |
20230226 |
|
| MN |
C16.320.365.826.150 C15.378.420.826.150 C15.378.050.141.150.875.150 C16.320.070.875.150 |
|
| notation |
D017086 |
|
| OL |
use THALASSEMIA to search ANEMIA, ERYTHROBLASTIC & ANEMIA, COOLEY'S & ANEMIA, MEDITERRANEAN 1966-92 and HEMOGLOBIN F DISEASE & THALASSEMIA MAJOR 1988-92 |
|
| prefLabel |
beta-Thalassemia |
|
| TERMUI |
T051013 T051009 T846075 T846076 T764011 T764012 T846074 T846073 T764010 T051008 T051010 T846072 T051007 T051012 T051011 |
|
| TH |
NLM (1993) GHR (2014) NLM (2011) ORD (2010) |
|
| tui |
T047 |
|
| subClassOf |