Heart-hand syndrome type 1

Preferred Label : Heart-hand syndrome type 1;

ICD-11 definition : Holt-Oram syndrome is characterized by mild-to-severe congenital cardiac defects (ostium secundum atrial septal defect (ASD), ventricular septal defect (VSD) and ostium primum ASD) and skeletal abnormalities of the upper limbs (radial ray abnormalities, absent or abnormal radius, upper limb-transverse elements missing and various thumb anomalies).;

ICD-11 synonym : Holt-Oram syndrome;

Details

Origin ID

1169240278;

UMLS CUI

C0265264;

Currated CISMeF NLP mapping
- Holt Oram syndrome [Disease (Nov.)]
- Holt-Oram Syndrome [NCIt concept]
- Holt-Oram syndrome [MedDRA Preferred Term]
- Holt-Oram syndrome [DO Concept]
- Holt-Oram syndrome [ORDO Disease]
- 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]
See also inter- (CISMeF)
- Heart-hand syndrome [ORDO Disease]
- 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]
- Holt Oram syndrome [Disease (Nov.)]
- Holt-Oram Syndrome [NCIt concept]
- Holt-Oram syndrome [DO Concept]
- Holt-Oram syndrome [MedDRA Preferred Term]
- Holt-Oram syndrome [MeSH concept]
- Holt-Oram syndrome [MeSH Supplementary Concept]
- Holt-Oram syndrome [ORDO Disease]
- Holt-Oram syndrome [PASCAL descriptor]
- Holt-Oram syndrome (disorder) [SNOMED CT concept]
- Holt-oram syndrome [OMIM Phenotype]
- holt-oram syndrome [SNOMED Notion]
Validated automatic mappings to NTBT
- Congenital malformation syndromes predominantly involving limbs [ICD-10 Sub-category]

Keyword's position in hierarchy(ies) :

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