Alpha-thalassemia myelodysplasia syndrome

Preferred Label : Alpha-thalassemia myelodysplasia syndrome;

Symbol : ATMDS;

CISMeF acronym : ATMDS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hemoglobin h disease, acquired;

Prefixed ID : #300448;

Details

Origin ID

300448;

UMLS CUI

C0585216;

Automatic exact mappings (from CISMeF team)
- Acquired hemoglobin H disease (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Alpha-Thalassemia myelodysplasia syndrome [MeSH concept]
- Alpha-Thalassemia myelodysplasia syndrome [MeSH Supplementary Concept]
- Alpha-thalassemia-myelodysplastic syndrome [ORDO Disease]
- alpha thalassemia myelodysplasia syndrome [Disease (Nov.)]
Genes related to phenotype
- Atrx chromatin remodeler [OMIM gene]
HPO term(s)
- HbH hemoglobin [HPO term]
- Hypochromic microcytic anemia [HPO term]
- Myelodysplasia [HPO term]
- Reduced alpha/beta synthesis ratio [HPO term]
ORDO concept(s)
- Alpha-thalassemia-myelodysplastic syndrome [ORDO Disease]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]
UMLS correspondences (same concept)
- Acquired hemoglobin H disease (disorder) [SNOMED CT concept]
- Alpha-Thalassemia myelodysplasia syndrome [MeSH Supplementary Concept]
- Alpha-Thalassemia myelodysplasia syndrome [MeSH concept]
- Alpha-thalassemia-myelodysplastic syndrome [ORDO Disease]
- alpha thalassemia myelodysplasia syndrome [Disease (Nov.)]
- alpha-thalassemia myelodysplasia syndrome [DO Concept]

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