Neural Tube Defect

Preferred Label : Neural Tube Defect;

NCIt synonyms : Spinal Dysraphism; NTD;

NCIt definition : A congenital defect characterized by failure of the neural tube to close completely; this results in the presence of openings in the brain or spinal cord. Examples of neural tube defects include encephalocele and spina bifida.;

Details

Origin ID

C84923;

UMLS CUI

C0027794;

Currated CISMeF NLP mapping
- Neural tube defect [ORDO Disease]
- Neural tube defect [MedDRA Preferred Term]
- Neural tube defect [PASCAL descriptor]
- Neural tube defect [HRDO Sign]
- Neural tube defect [HPO term]
- Neural tube defect (disorder) [SNOMED CT concept]
- Neural tube defects, susceptibility to [OMIM Phenotype]
- neural tube defect [Radlex concept]
- neural tube defect [DO Concept]
- neural tube defect [Disease (Nov.)]
- neural tube defects [MedlinePlus Topic]
- neural tube defects [MeSH Descriptor]
- neural tube defects [MeSH concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- NTDS [LOINC method]
- Neural tube closure defect [ORDO Disease]
- Neural tube defect [ORDO Disease]
- Neural tube defect [HPO term]
- Neural tube defect [LOINC component]
- Neural tube defect [MedDRA Preferred Term]
- Neural tube defect (disorder) [SNOMED CT concept]
- Spinal dysraphism [HPO term]
- neural tube defect [Radlex concept]
- neural tube defects [MeSH concept]
- neural tube defects [MedlinePlus Topic]
- neural tube defects [MeSH Descriptor]
Validated automatic mappings to BTNT
- Spina bifida [ICD-11 Category]
- Spina bifida (disorder) [SNOMED CT concept]
- Spinal dysraphism [HPO term]
- spina bifida [Disease (Nov.)]
- spinal dysraphism [MeSH Descriptor]
- spinal dysraphism [MeSH concept]
concept_is_in_subset
- CPTAC Codelists Terminology [NCIt concept]
- CPTAC Medical Conditions Codelist [NCIt concept]
- CPTAC Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
- Newborn Screening Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]

Keyword's position in hierarchy(ies) :

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