Alpha thalassaemia - X-linked intellectual deficit

Preferred Label : Alpha thalassaemia - X-linked intellectual deficit;

ICD-11 definition : X-linked alpha thalassaemia intellectual deficit (ATR-X) syndrome in males is associated with profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassaemia. Female carriers are usually physically and intellectually normal.;

ICD-11 synonym : X-linked alpha thalassaemia with mental retardation;

Details

Origin ID

1817564839;

UMLS CUI

C1845055;

Currated CISMeF NLP mapping
- ATR-X syndrome [PASCAL descriptor]
- ATR-X syndrome [MeSH Supplementary Concept]
- ATR-X syndrome [MeSH concept]
- Alpha Thalassemia X-Linked Mental Retardation Syndrome [NCIt concept]
- Alpha thalassemia X-linked intellectual disability syndrome (disorder) [SNOMED CT concept]
- Alpha-thalassemia-X-linked intellectual disability syndrome [ORDO Disease]
- Alpha-thalassemia/impaired intellectual development syndrome, X-linked [OMIM Phenotype]
- alpha thalassemia-X-linked intellectual disability syndrome [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- ATR-X syndrome [MeSH concept]
- ATR-X syndrome [MeSH Supplementary Concept]
- ATR-X syndrome [PASCAL descriptor]
- ATRX syndrome [MedDRA LLT]
- Alpha Thalassemia X-Linked Mental Retardation Syndrome [NCIt concept]
- Alpha thalassaemia X-linked intellectual disability syndrome [MedDRA LLT]
- Alpha thalassemia X-linked intellectual disability syndrome [MedDRA LLT]
- Alpha thalassemia X-linked intellectual disability syndrome (disorder) [SNOMED CT concept]
- Alpha-thalassemia-X-linked intellectual disability syndrome [ORDO Disease]
- Alpha-thalassemia/impaired intellectual development syndrome, X-linked [OMIM Phenotype]
- alpha thalassemia-X-linked intellectual disability syndrome [DO Concept]

Keyword's position in hierarchy(ies) :

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