Alpha thalassemia

Preferred Label : Alpha thalassemia;

Inclusion CIM-10 : Hydrops fetalis due to alpha thalassemia; Triple gene defect alpha thalassemia; Severe alpha thalassemia; Alpha thalassemia major; Hemoglobin H disease; Hemoglobin H Constant Spring;

ICD-10 exclusion note : hydrops fetalis not due to immune hemolysis (P83.2); alpha thalassemia trait or minor (D56.3); asymptomatic alpha thalassemia (D56.3); hydrops fetalis due to isoimmunization (P56.0);

Diag associé à un acte (%) : 69.2;

Source : OMS;

Date de début : 01/01/1997;

Détails

Origin ID

D560;

UMLS CUI

C0002312;

Automatic exact mappings (from CISMeF team)
- Hemoglobin Bart's hydrops syndrome (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Alpha Thalassemia [NCIt concept]
- Alpha plus thalassemia (disorder) [SNOMED CT concept]
- Alpha thalassaemia [MedDRA LLT]
- Alpha thalassaemia [ICD-10 Sub-category (who)]
- Alpha thalassemia (disorder) [SNOMED CT concept]
- Alpha-thalassaemia [MedDRA LLT]
- Alpha-thalassemia [OMIM Phenotype]
- Alpha-thalassemia [ORDO Disease]
- Hemoglobin H Disease [NCIt concept]
- Hemoglobin H disease [ORDO Disease]
- Hemoglobin H disease [MedDRA LLT]
- Hemoglobin H disease (disorder) [SNOMED CT concept]
- Hemoglobin h disease [OMIM Phenotype]
- Thalassaemia alpha [MedDRA Preferred Term]
- Thalassemia alpha [MedDRA LLT]
- alpha thalassemia [Disease (Nov.)]
- alpha thalassemia [DO Concept]
- alpha thalassemia, nos [SNOMED Notion]
- alpha+ thalassemia, nos [SNOMED Notion]
- alpha-Thalassemia [MeSH concept]
- alpha-Thalassemia [MeSH Descriptor]
- hemoglobin H disease [DO Concept]
DO Cross reference
- alpha thalassemia [DO Concept]
- alpha thalassemia-X-linked intellectual disability syndrome [DO Concept]
- alpha thalassemia-intellectual disability syndrome type 1 [DO Concept]
- hemoglobin H disease [DO Concept]
ICD-10 exclusion(s)
- Hydrops fetalis due to hemolytic disease [ICD-10 category]
Manual NTBT mappings (CISMeF)
- Alpha-thalassemia-X-linked intellectual disability syndrome [ORDO Disease]
Orphanet concepts
- Alpha-thalassemia [ORDO Disease]
- Alpha-thalassemia and related disorders [ORDO Disease]
- Alpha-thalassemia-X-linked intellectual disability syndrome [ORDO Disease]
- Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 [ORDO Disease]
- Alpha-thalassemia-myelodysplastic syndrome [ORDO Disease]
- Hb Bart's hydrops fetalis [ORDO Disease]
- Hemoglobin H disease [ORDO Disease]
- Hemoglobinopathy [ORDO Disease]
- Syndrome with alpha-thalassemia as a major feature [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Alpha Thalassemia [NCIt concept]
- Alpha thalassaemia [MedDRA LLT]
- Alpha thalassemia [ICD-9 code]
- Alpha thalassemia (disorder) [SNOMED CT concept]
- Alpha-thalassaemia [MedDRA LLT]
- Alpha-thalassemia [OMIM Phenotype]
- Alpha-thalassemia [ORDO Disease]
- Thalassaemia alpha [MedDRA Preferred Term]
- Thalassemia alpha [MedDRA LLT]
- alpha thalassemia [DO Concept]
- alpha thalassemia, nos [SNOMED Notion]
- alpha-Thalassemia [MeSH Descriptor]
- alpha-Thalassemia [MeSH concept]
- hemoglobin h disease [SNOMED Notion]

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

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