thiamine responsive megaloblastic anemia syndrome

Preferred Label : thiamine responsive megaloblastic anemia syndrome;

MeSH note : Diabetes mellitus, thiamine-dependent megaloblastic anemia, and sensorineural deafness associated with deficient alpha-ketoglutarate dehydrogenase act;

MeSH synonym : thiamine responsive myelodysplasia; abboud syndrome; rogers syndrome; Thiamine-Responsive myelodysplasia; megaloblastic anemia, Thiamine-Responsive, with diabetes mellitus and sensorineural deafness; Thiamine-Responsive anemia syndrome; Thiamine-Responsive megaloblastic anemia syndrome;

Is substance : O;

Details

Origin ID

C536510;

UMLS CUI

C0342287;

Currated CISMeF NLP mapping
- Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness (disorder) [SNOMED CT concept]
- Thiamine-responsive megaloblastic anaemia syndrome [ICD-11 More detail]
- Thiamine-responsive megaloblastic anemia (disorder) [SNOMED CT concept]
- Thiamine-responsive megaloblastic anemia syndrome [OMIM Phenotype]
- Thiamine-responsive megaloblastic anemia syndrome [ORDO Disease]
- thiamine responsive anemia syndrome [Disease (Nov.)]
- thiamine-responsive megaloblastic anemia [SNOMED Notion]
- thiamine-responsive megaloblastic anemia syndrome [DO Concept]
DO Cross reference
- thiamine-responsive megaloblastic anemia syndrome [DO Concept]
MeSH term(s) associated for indexing
- anemia, megaloblastic [MeSH Descriptor]
- diabetes mellitus [MeSH Descriptor]
- hearing loss, sensorineural [MeSH Descriptor]
- ketoglutarate dehydrogenase complex [MeSH Descriptor]
- thiamine deficiency [MeSH Descriptor]
ORDO relation(s)
- Thiamine-responsive megaloblastic anemia syndrome [ORDO Disease]
Record concept(s)
- Thiamine responsive megaloblastic anemia syndrome [MeSH concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness (disorder) [SNOMED CT concept]
- Thiamine-responsive megaloblastic anemia syndrome [ORDO Disease]
- Thiamine-responsive megaloblastic anemia syndrome [OMIM Phenotype]
- thiamine responsive anemia syndrome [Disease (Nov.)]
- thiamine-responsive megaloblastic anemia syndrome [DO Concept]

Keyword's position in hierarchy(ies) :

Main resources

You can consult :

recommendations
documents concerning education
documents for patients