Long QT syndrome type 8

Preferred Label : Long QT syndrome type 8;

ICD-11 definition : Timothy syndrome is a multisystem disorder sometimes referred as to Long QT syndrome type 8 (LQTS8), characterized by cardiac, hand, facial and neurodevelopmental features that include QT prolongation, webbed fingers and toes, flattened nasal bridge, low-set ears, small upper jaw, thin upper lip, and characteristic features of autism or autistic spectrum disorders.;

ICD-11 synonym : Timothy syndrome;

Details

Origin ID

1501560837;

UMLS CUI

C1832916;

Currated CISMeF NLP mapping
- Long QT Syndrome 8 [NCIt concept]
- Long qt syndrome 8 [OMIM Phenotype]
- Timothy syndrome [ORDO Disease]
- Timothy syndrome [OMIM Phenotype]
- Timothy syndrome [MeSH concept]
- Timothy syndrome [DO Concept]
- Timothy syndrome [MedDRA Preferred Term]
- Timothy syndrome [Disease (Nov.)]
- Timothy syndrome (disorder) [SNOMED CT concept]
- timothy syndrome [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Long QT Syndrome 8 [NCIt concept]
- Long qt syndrome 8 [OMIM Phenotype]
- Timothy syndrome [DO Concept]
- Timothy syndrome [OMIM Phenotype]
- Timothy syndrome [MeSH concept]
- Timothy syndrome [Disease (Nov.)]
- Timothy syndrome [ORDO Disease]
- Timothy syndrome [MedDRA Preferred Term]
- Timothy syndrome (disorder) [SNOMED CT concept]
- Timothy syndrome type 1 (disorder) [SNOMED CT concept]
- timothy syndrome [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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