timothy syndrome

Preferred Label : timothy syndrome;

CISMeF acronym : LQT8;

MeSH synonym : long QT syndrome with syndactyly; long qt syndrome 8;

Origin ID

C536962;

UMLS CUI

C1832916;

Automatic exact mappings (from CISMeF team)
- calcium voltage-gated channel subunit alpha1 C [ORDO Gene]
Currated CISMeF NLP mapping
- Long QT Syndrome 8 [NCIt concept]
- Long QT syndrome type 8 [ICD-11 More detail]
- Long qt syndrome 8 [OMIM Phenotype]
- Timothy syndrome [DO Concept]
- Timothy syndrome [Disease (Nov.)]
- Timothy syndrome [MedDRA Preferred Term]
- Timothy syndrome [OMIM Phenotype]
- Timothy syndrome [ORDO Disease]
- Timothy syndrome (disorder) [SNOMED CT concept]
DO Cross reference
- Timothy syndrome [DO Concept]
MeSH term(s) associated for indexing
- autistic disorder [MeSH Descriptor]
- long qt syndrome [MeSH Descriptor]
- syndactyly [MeSH Descriptor]
ORDO relation(s)
- Timothy syndrome [ORDO Disease]
Record concept(s)
- Timothy syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Long QT Syndrome 8 [NCIt concept]
- Long QT syndrome type 8 [ICD-11 More detail]
- Long qt syndrome 8 [OMIM Phenotype]
- Timothy syndrome [OMIM Phenotype]
- Timothy syndrome [ORDO Disease]
- Timothy syndrome [DO Concept]
- Timothy syndrome [Disease (Nov.)]
- Timothy syndrome [MedDRA Preferred Term]
- Timothy syndrome (disorder) [SNOMED CT concept]
- Timothy syndrome type 1 (disorder) [SNOMED CT concept]
Validated automatic mappings to BTNT
- Timothy syndrome type 1 (disorder) [SNOMED CT concept]