Holt-Oram Syndrome

Preferred Label : Holt-Oram Syndrome;

NCIt definition : A rare, autosomal dominant inherited syndrome caused by mutations in the TBX5 gene. It is characterized by skeletal abnormalities in the upper limbs and heart abnormalities.;

Details

Origin ID

C125592;

UMLS CUI

C0265264;

Currated CISMeF NLP mapping
- Heart-hand syndrome [ORDO Disease]
- Heart-hand syndrome type 1 [ICD-11 More detail]
- Holt Oram syndrome [Disease (Nov.)]
- Holt-Oram syndrome [MedDRA Preferred Term]
- Holt-Oram syndrome [ORDO Disease]
- Holt-Oram syndrome [DO Concept]
- Holt-Oram syndrome [MeSH Supplementary Concept]
- Holt-Oram syndrome [MeSH concept]
- Holt-Oram syndrome [PASCAL descriptor]
- Holt-Oram syndrome (disorder) [SNOMED CT concept]
- Holt-Oram syndrome (disorder) [Inactive SNOMED CT concept]
- Holt-oram syndrome [OMIM Phenotype]
- holt-oram syndrome [SNOMED Notion]
DO Cross reference
- Holt-Oram syndrome [DO Concept]
See also inter- (CISMeF)
- Wildervanck syndrome [OMIM Phenotype]
- Wildervanck syndrome [ORDO Disease]
- Wildervanck syndrome [MedDRA Preferred Term]
- Wildervanck syndrome (disorder) [SNOMED CT concept]
- wildervanck's syndrome [SNOMED Notion]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Heart-hand syndrome [ORDO Disease]
- Heart-hand syndrome type 1 [ICD-11 More detail]
- Holt Oram syndrome [Disease (Nov.)]
- Holt-Oram syndrome [ORDO Disease]
- Holt-Oram syndrome [PASCAL descriptor]
- Holt-Oram syndrome [DO Concept]
- Holt-Oram syndrome [MeSH Supplementary Concept]
- Holt-Oram syndrome [MeSH concept]
- Holt-Oram syndrome [MedDRA Preferred Term]
- Holt-Oram syndrome (disorder) [SNOMED CT concept]
- Holt-oram syndrome [OMIM Phenotype]
- holt-oram syndrome [SNOMED Notion]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- TBX5 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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