Beta-thalassemia, dominant inclusion body type

Preferred Label : Beta-thalassemia, dominant inclusion body type;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Dyserythropoietic anemia, congenital, irish or weatherall type;

Prefixed ID : #603902;

Détails

Origin ID

603902;

UMLS CUI

C1858990;

Automatic exact mappings (from CISMeF team)
- beta thalassemia, dominant inclusion body type [MeSH concept]
Currated CISMeF NLP mapping
- Dominant beta-thalassemia [ORDO Disease]
- beta thalassemia, dominant inclusion body type [MeSH Supplementary Concept]
DO Cross reference
- autosomal dominant beta thalassemia [DO Concept]
Genes related to phenotype
- Hemoglobin--beta locus [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Decreased mean corpuscular hemoglobin concentration [HPO term]
- Erythrocyte inclusion bodies [HPO term]
- Hepatomegaly [HPO term]
- Increased HbA2 hemoglobin [HPO term]
- Microcytic anemia [HPO term]
- Persistence of hemoglobin F [HPO term]
- Splenomegaly [HPO term]
ORDO concept(s)
- Beta-thalassemia [ORDO Disease]
- Dominant beta-thalassemia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Dominant beta-thalassemia [ORDO Disease]
- Dominant beta-thalassemia (disorder) [SNOMED CT concept]
- beta thalassemia, dominant inclusion body type [MeSH Supplementary Concept]
- beta thalassemia, dominant inclusion body type [MeSH concept]
Validated automatic mappings to NTBT
- Dominant beta thalassaemia [ICD-11 More detail]
- Dominant beta-thalassemia (disorder) [SNOMED CT concept]

Position du mot-clé dans l'(les) arborescence(s) :

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