VACTERL association with hydrocephalus

Preferred Label : VACTERL association with hydrocephalus;

MeSH note : mutation in ZIC3;

MeSH synonym : VACTERL-H; X-linked VACTERL-H syndrome; VACTERL hydrocephaly; VACTERL-H, X-Linked; VACTERL Association With Hydrocephalus, X-Linked; VACTERL association with hydrocephaly, X-linked; VACTERL association with hydrocephaly;

Détails

Origin ID

C564751;

UMLS CUI

C1848599;

Currated CISMeF NLP mapping
- VACTERL with hydrocephalus [ICD-11 More detail]
- VACTERL with hydrocephalus [ORDO Disease]
- Vacterl association with hydrocephalus [OMIM Phenotype]
- Vertebral abnormality, anal atresia, cardiac abnormality, tracheo-esophageal fistula, renal anomaly, limb defect syndrome with hydrocephalus (disorder) [SNOMED CT concept]
MeSH term(s) associated for indexing
- cardiovascular abnormalities [MeSH Descriptor]
- digestive system abnormalities [MeSH Descriptor]
- genetic diseases, X-linked [MeSH Descriptor]
- hydrocephalus [MeSH Descriptor]
- musculoskeletal abnormalities [MeSH Descriptor]
Record concept(s)
- VACTERL association with hydrocephalus [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- VACTERL with hydrocephalus [ORDO Disease]
- Vacterl association with hydrocephalus [OMIM Phenotype]
Validated automatic mappings to NTBT
- Vacterl association, X-linked, with or without hydrocephalus [OMIM Phenotype]

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