Thiamine-responsive megaloblastic anaemia syndrome

Preferred Label : Thiamine-responsive megaloblastic anaemia syndrome;

ICD-11 definition : Thiamine-responsive megaloblastic anemia is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness.;

ICD-11 synonym : Thiamine-responsive megaloblastic anaemia; TRMA - [Thiamine-responsive megaloblastic anaemia]; Thiamine-responsive megaloblastic anaemia with diabetes mellitus and sensorineural deafness; Roger syndrome;

ICD-11 acronym : TRMA;

Details

Origin ID

1165037235;

Automatic exact mappings (from CISMeF team)
- Thiamine-responsive megaloblastic anemia [HPO term]
- solute carrier family 19 member 2 [ORDO Gene]
Currated CISMeF NLP mapping
- Thiamine responsive megaloblastic anemia syndrome [MeSH concept]
- Thiamine-responsive megaloblastic anemia (disorder) [SNOMED CT concept]
- Thiamine-responsive megaloblastic anemia syndrome [ORDO Disease]
- thiamine responsive anemia syndrome [Disease (Nov.)]
- thiamine responsive megaloblastic anemia syndrome [MeSH Supplementary Concept]
- thiamine-responsive megaloblastic anemia [SNOMED Notion]
- thiamine-responsive megaloblastic anemia syndrome [DO Concept]
Validated automatic mappings to BTNT
- Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness (disorder) [SNOMED CT concept]
- Thiamine-responsive megaloblastic anemia syndrome [OMIM Phenotype]

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