Alpha-Thalassemia mental retardation syndrome, Deletion-Type

Preferred Label : Alpha-Thalassemia mental retardation syndrome, Deletion-Type;

MeSH synonym : mental retardation with hemoglobin H; ATR-16 syndrome; hemoglobin H-Related mental retardation;

Details

Origin ID

C563050;

UMLS CUI

C0795917;

Automatic exact mappings (from CISMeF team)
- alpha thalassemia-intellectual disability syndrome type 1 [DO Concept]
Currated CISMeF NLP mapping
- Alpha thalassaemia - intellectual deficit syndrome [ICD-11 More detail]
- Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 (disorder) [SNOMED CT concept]
- Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 [ORDO Disease]
- Alpha-thalassemia/impaired intellectual development syndrome, deletion type [OMIM Phenotype]
MeSH term(s) associated for indexing
- alpha-Thalassemia [MeSH Descriptor]
- intellectual disability [MeSH Descriptor]
Record concept(s)
- Alpha-Thalassemia mental retardation syndrome, Deletion-Type [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- ATR 16 syndrome [MedDRA LLT]
- Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 (disorder) [SNOMED CT concept]
- Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 [ORDO Disease]
- Alpha-thalassemia/impaired intellectual development syndrome, deletion type [OMIM Phenotype]

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