Vater/vacterl association

Preferred Label : Vater/vacterl association;

Type : Phenotype or locus, molecular basis unknown;

Inheritance : Isolated cases;

Molecular basis : A mutation in the homeobox D13 gene (HOXD13, 142989.0012) has been identified in 1 patient.;

Prefixed ID : %192350;

Details

Origin ID

192350;

UMLS CUI

C4225671;

Automatic exact mappings (from CISMeF team)
- VATER association [ICD-11 Sub-sub category]
Currated CISMeF NLP mapping
- VACTERL Association [NCIt concept]
- VACTERL association [DO Concept]
- VACTERL association [Disease (Nov.)]
- VACTERL association [MeSH Supplementary Concept]
- VACTERL association [MeSH concept]
- VACTERL syndrome [MedDRA Preferred Term]
- VACTERL/VATER association [ORDO Disease]
- VATER association [MeSH Supplementary Concept]
- VATER association [MeSH concept]
- Vertebral abnormalities, anal atresia, cardiac abnormalities, tracheo-esophageal fistula, renal anomalies, limb defects syndrome (disorder) [SNOMED CT concept]
- Vertebral anomalies/dysgenesis, anal atresia, tracheo-esophageal fistula, esophageal atresia, renal anomalies, radial dysplasia association (disorder) [SNOMED CT concept]
DO Cross reference
- VACTERL association [DO Concept]
HPO term(s)
- Abnormal nasopharynx morphology [HPO term]
- Abnormal rib morphology [HPO term]
- Abnormal sternum morphology [HPO term]
- Abnormal vertebral morphology [HPO term]
- Absent radius [HPO term]
- Anal atresia [HPO term]
- Choanal atresia [HPO term]
- Ectopic kidney [HPO term]
- Esophageal atresia [HPO term]
- Failure to thrive [HPO term]
- Hydronephrosis [HPO term]
- Hypoplasia of the radius [HPO term]
- Hypospadias [HPO term]
- Intrauterine growth retardation [HPO term]
- Isolated cases [HPO term]
- Large fontanelles [HPO term]
- Laryngeal stenosis [HPO term]
- Occipital encephalocele [HPO term]
- Patent ductus arteriosus [HPO term]
- Patent urachus [HPO term]
- Postnatal growth retardation [HPO term]
- Preaxial polydactyly [HPO term]
- Prenatal growth deficiency [HPO term]
- Radioulnar synostosis [HPO term]
- Renal agenesis [HPO term]
- Renal dysplasia [HPO term]
- Scoliosis [HPO term]
- Short thumb [HPO term]
- Single umbilical artery [HPO term]
- Spina bifida [HPO term]
- Sporadic [HPO term]
- Syndactyly [HPO term]
- Tethered cord [HPO term]
- Tetralogy of Fallot [HPO term]
- Tracheoesophageal fistula [HPO term]
- Transposition of the great arteries [HPO term]
- Triphalangeal thumb [HPO term]
- Ureteropelvic junction obstruction [HPO term]
- Ventricular septal defect [HPO term]
- Vesicoureteral reflux [HPO term]
ORDO concept(s)
- VACTERL/VATER association [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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