Vacterl association with hydrocephalus

Preferred Label : Vacterl association with hydrocephalus;

CISMeF acronym : VACTERL-H;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : VACTERL-H;

Included titles and symbols : Vater association with hydrocephalus; Vater association with macrocephaly and ventriculomegaly;

Inheritance : ? Autosomal recessive;

Prefixed ID : %276950;

Détails

Origin ID

276950;

UMLS CUI

C1848599;

Automatic exact mappings (from CISMeF team)
- vater association with hydrocephalus [MeSH Supplementary Concept]
- vater association with hydrocephalus [MeSH concept]
- vater association with macrocephaly and ventriculomegaly [MeSH concept]
Currated CISMeF NLP mapping
- VACTERL association with hydrocephalus [MeSH concept]
- VACTERL association with hydrocephalus [MeSH Supplementary Concept]
- VACTERL with hydrocephalus [ICD-11 More detail]
- VACTERL with hydrocephalus [ORDO Disease]
- Vertebral abnormality, anal atresia, cardiac abnormality, tracheo-esophageal fistula, renal anomaly, limb defect syndrome with hydrocephalus (disorder) [SNOMED CT concept]
DO Cross reference
- VACTERL association [DO Concept]
HPO term(s)
- Abnormal heart morphology [HPO term]
- Abnormal vertebral morphology [HPO term]
- Abnormality of cardiovascular system morphology [HPO term]
- Abnormality of the vertebral column [HPO term]
- Absent thumb [HPO term]
- Anal atresia [HPO term]
- Aqueductal stenosis [HPO term]
- Autosomal recessive inheritance [HPO term]
- Hydrocephalus [HPO term]
- Radial club hand [HPO term]
- Renal hypoplasia [HPO term]
- Respiratory failure [HPO term]
- Respiratory insufficiency [HPO term]
- Stillbirth [HPO term]
- Stillbirth [HPO term]
ORDO concept(s)
- VACTERL with hydrocephalus [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- VACTERL association with hydrocephalus [MeSH Supplementary Concept]
- VACTERL association with hydrocephalus [MeSH concept]
- VACTERL with hydrocephalus [ORDO Disease]
Validated automatic mappings to NTBT
- VACTERL association [DO Concept]

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