ATR-X syndrome

Preferred Label : ATR-X syndrome;

CISMeF synonym : Alpha-Thalassemia/Mental retardation syndrome, nondeletion type, X-Linked;

MeSH synonym : ATR non deletion type; alpha-thalassemia X-linked mental retardation syndrome; X-linked alpha thalassemia mental retardation syndrome; alpha thalassemia mental retardation syndrome, non deletion type, X-linked; atr, nondeletion type; alpha thalassemia X-Linked intellectual disability syndrome; alpha thalassemia X-Linked mental retardation syndrome; alpha Thalassemia-Mental retardation, X-Linked; XLMR-Hypotonic face syndrome; Alpha-Thalassemia-Mental retardation syndrome, nondeletion type, X-Linked; ATRX syndrome; X-Linked Alpha-Thalassemia mental retardation syndrome; Alpha-Thalassemia-Mental retardation syndrome, nondeletion type;

Details

Origin ID

C538258;

UMLS CUI

C1845055;

Automatic exact mappings (from CISMeF team)
- ATRX syndrome [MedDRA LLT]
- Alpha thalassemia X-linked intellectual disability syndrome [MedDRA LLT]
CISMeF manual mappings
- Alpha thalassemia X-linked intellectual disability syndrome (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- ATR-X syndrome [PASCAL descriptor]
- Alpha Thalassemia X-Linked Mental Retardation Syndrome [NCIt concept]
- Alpha thalassaemia - X-linked intellectual deficit [ICD-11 More detail]
- 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]
MeSH term(s) associated for indexing
- X-Linked Intellectual Disability [MeSH Descriptor]
- alpha-Thalassemia [MeSH Descriptor]
Record concept(s)
- ATR-X syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- ATR-X syndrome [PASCAL descriptor]
- ATRX syndrome [MedDRA LLT]
- Alpha Thalassemia X-Linked Mental Retardation Syndrome [NCIt concept]
- Alpha thalassaemia - X-linked intellectual deficit [ICD-11 More detail]
- 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) :

Main resources

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