neural tube defects

Preferred Label : neural tube defects;

MeSH definition : Congenital malformations of the central nervous system and adjacent structures related to defective neural tube closure during the first trimester of pregnancy generally occurring between days 18-29 of gestation. Ectodermal and mesodermal malformations (mainly involving the skull and vertebrae) may occur as a result of defects of neural tube closure. (From Joynt, Clinical Neurology, 1992, Ch55, pp31-41);

MeSH synonym : defect, neural tube; developmental neural tube defects; developmental defects, neural tube; neural tube defect; defects, neural tube; neural tube developmental defects;

CISMeF synonym : myelodysplasia; myelodysplasias;

MeSH hyponym : acrania; diastematomyelia; spinal cord myelodysplasia; craniorachischisis; iniencephaly; exencephaly; tethered cord syndrome; neurenteric cyst; Craniorachischises; Diastematomyelias; Tethered Cord Syndromes; Occult Spinal Dysraphism Sequence; Tethered Spinal Cord Syndrome; Occult Spinal Dysraphism; Dysraphism, Occult Spinal; Dysraphisms, Occult Spinal; Occult Spinal Dysraphisms; Spinal Dysraphism, Occult; Spinal Dysraphisms, Occult; Iniencephalies; Cyst, Neurenteric; Cysts, Neurenteric; Neurenteric Cysts; Neuroenteric Cyst; Cyst, Neuroenteric; Cysts, Neuroenteric; Neuroenteric Cysts; Myelodysplasia, Spinal Cord; Myelodysplasias, Spinal Cord; Spinal Cord Myelodysplasias; Acranias; Exencephalies;

MeSH annotation : do not confuse entry term SPINAL CORD MYELODYSPLASIA with MYELODYSPLASTIC SYNDROMES, a defect of bone marrow formation;

Wikipedia link : https://en.wikipedia.org/wiki/Neural tube defects;

Details

Origin ID

D009436;

UMLS CUI

C0027794;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Acrania [HPO term]
- Acrania (disorder) [SNOMED CT concept]
- Acraniate monster (disorder) [Inactive SNOMED CT concept]
- Albinism, oculocutaneous, type ia [OMIM Phenotype]
- Anencephaly [ICD-10 Sub-category]
- Anencephaly [ICD-10 Sub-category (who)]
- Craniorachischisis [NCIt concept]
- Craniorachischisis [ICD-9 code]
- Craniorachischisis [ICD-10 Sub-category]
- Craniorachischisis [ICD-10 Sub-category (who)]
- Craniorachischisis [MedDRA Preferred Term]
- Craniorachischisis [ORDO Disease]
- Craniorachischisis (disorder) [SNOMED CT concept]
- Diastematomyelia [PASCAL descriptor]
- Diastematomyelia [NCIt concept]
- Diastematomyelia [ICD-10 Sub-category]
- Diastematomyelia [ICD-11 Subcategory]
- Diastematomyelia [ICD-9 code]
- Diastematomyelia [ACR pathology]
- Diastematomyelia [ICD-10 Sub-category (who)]
- Diastematomyelia [MedDRA Preferred Term]
- Diastematomyelia [HRDO Sign]
- Diastematomyelia [OMIM Phenotype]
- Diastematomyelia (disorder) [Inactive SNOMED CT concept]
- Exencephaly [NCIt concept]
- Exencephaly [HPO term]
- Exencephaly [MedDRA LLT]
- Exencephaly (disorder) [SNOMED CT concept]
- Exencéphaly [PASCAL descriptor]
- Hypoplasia and dysplasia of spinal cord [ICD-10 Sub-category]
- Hypoplasia and dysplasia of spinal cord [ICD-10 Sub-category (who)]
- Iniencephalus [PASCAL descriptor]
- Iniencephaly [ICD-10 Sub-category]
- Iniencephaly [ICD-9 code]
- Iniencephaly [ICD-10 Sub-category (who)]
- Iniencephaly [MedDRA Preferred Term]
- Iniencephaly [ORDO Disease]
- Iniencephaly (disorder) [SNOMED CT concept]
- Iniencephaly - open (disorder) [SNOMED CT concept]
- Myelodysplasia [HPO term]
- Myelodysplasia [MedDRA LLT]
- Myelodysplasia of spinal cord (disorder) [SNOMED CT concept]
- Myelodysplasia, CTCAE [NCIt concept]
- Myelodysplastic Syndrome [NCIt concept]
- Myelodysplastic syndrome [PASCAL descriptor]
- Myelodysplastic syndrome, unclassifiable [ICD-11 Category]
- Myelodysplastic syndrome, unspecified [ICD-10 Sub-category (who)]
- Neurenteric cyst [ACR pathology]
- Occult spinal dysraphism [ICD-11 Subcategory]
- Occult spinal dysraphism sequence (disorder) [SNOMED CT concept]
- Spinal dysraphism [HPO term]
- Split cord malformation type I [ORDO Disease]
- Split spinal cord malformation (disorder) [SNOMED CT concept]
- TYR wt Allele [NCIt concept]
- Tethered Spinal Cord Syndrome [NCIt concept]
- Tethered cord [HPO term]
- Tethered cord syndrome [PASCAL descriptor]
- Tethered cord syndrome [MedDRA Preferred Term]
- acraniate monster, nos [SNOMED Notion]
- craniorachischisis [SNOMED Notion]
- diastematomyelia [SNOMED Notion]
- exencephaly [SNOMED Notion]
- iniencephaly [SNOMED Notion]
- myelodysplasia [SNOMED Notion]
- myelodysplastic syndrome [Blood Transfusion thesaurus concept]
- occult spinal dysraphism sequence [SNOMED Notion]
- tethered spinal cord syndrome [DO Concept]
Currated CISMeF NLP mapping
- Neural Tube Defect [NCIt concept]
- Neural tube closure defect [ORDO Disease]
- Neural tube defect [PASCAL descriptor]
- Neural tube defect [HPO term]
- Neural tube defect [MedDRA Preferred Term]
- Neural tube defect [LOINC component]
- Neural tube defect [ORDO Disease]
- Neural tube defect [HRDO Sign]
- Neural tube defect (disorder) [SNOMED CT concept]
- Neurenteric cyst [HPO term]
- neural tube defect [DO Concept]
- neural tube defect [Disease (Nov.)]
- neural tube defect [Radlex concept]
- neural tube defects [MedlinePlus Topic]
HPO term
- Acrania [HPO term]
- Craniorachischisis [HPO term]
- Exencephaly [HPO term]
- Neural tube defect [HPO term]
- Neurenteric cyst [HPO term]
- Spinal dysraphism [HPO term]
- Tethered cord [HPO term]
Manual BTNT mappings - CISMeF
- Caudal duplication [ORDO Disease]
- Caudal regression syndrome [ORDO Disease]
- Familial caudal dysgenesis [ORDO Disease]
- Holoprosencephaly-caudal dysgenesis syndrome [ORDO Disease]
- Kousseff syndrome [ORDO Disease]
- LUMBAR syndrome [ORDO Disease]
- Lateral meningocele syndrome [ORDO Disease]
- Schisis association [ORDO Disease]
- Spina bifida-hypospadias syndrome [ORDO Disease]
Manual NTBT mappings (CISMeF)
- Multiple congenital anomalies/dysmorphic syndrome-intellectual disability [ORDO Disease]
- Non-syndromic central nervous system malformation [ORDO Disease]
- Rare developmental defect during embryogenesis [ORDO Disease]
- Rare genetic developmental defect during embryogenesis [ORDO Disease]
- Rare genetic syndromic intellectual disability [ORDO Disease]
- Rare syndromic intellectual disability [ORDO Disease]
Mapping VCM hiérarchique
- deformity [VCM modifier]
MedlinePlus topic(s)
- neural tube defects [MedlinePlus Topic]
ORDO relation(s)
- Acalvaria [ORDO Disease]
Record concept(s)
- acrania [MeSH concept]
- craniorachischisis [MeSH concept]
- diastematomyelia [MeSH concept]
- exencephaly [MeSH concept]
- iniencephaly [MeSH concept]
- neural tube defects [MeSH concept]
- neurenteric cyst [MeSH concept]
- spinal cord myelodysplasia [MeSH concept]
- tethered cord syndrome [MeSH concept]
Related MeSH Supplementary Concept(s)
- acalvaria [MeSH Supplementary Concept]
- craniofacial abnormalities, cataracts, congenital heart disease, sacral neural tube defects, and growth and developmental retardation [MeSH Supplementary Concept]
- midline defects, X-Linked [MeSH Supplementary Concept]
- neural tube defects X-linked [MeSH Supplementary Concept]
See also (suggested by CISMeF)
- neural tube [MeSH Descriptor]
See also inter- (CISMeF)
- Iniencephaly [ICD-11 Subcategory]
- Neural tube defects, susceptibility to [OMIM Phenotype]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- NTDS [LOINC method]
- Neural Tube Defect [NCIt concept]
- Neural tube closure defect [ORDO Disease]
- Neural tube defect [ORDO Disease]
- Neural tube defect [MedDRA Preferred Term]
- Neural tube defect [HPO term]
- Neural tube defect [LOINC component]
- Neural tube defect (disorder) [SNOMED CT concept]
- Spinal dysraphism [HPO term]
- neural tube defect [Radlex concept]
- neural tube defects [MedlinePlus Topic]
Validated automatic mappings to BTNT
- Acalvaria [ICD-11 More detail]
- Acalvaria [ORDO Disease]
- Craniorachischisis [ICD-11 Sub-sub category]
- Craniorachischisis [HPO term]
- Exencephaly [ICD-11 More detail]
- Iniencephaly [NCIt concept]
- Neurenteric cyst [ICD-11 More detail]
- Neurenteric cyst [HPO term]
- Neurenteric cyst [ORDO Disease]
- Neurenteric cyst (disorder) [SNOMED CT concept]
- Neurenteric cyst (morphologic abnormality) [SNOMED CT concept]
- Neuroenteric cyst (disorder) [SNOMED CT concept]
- craniorachischisis [Disease (Nov.)]
- diastematomyelia [Disease (Nov.)]
- neurenteric cyst [Radlex concept]
- neurenteric cyst [SNOMED Notion]

Keyword's position in hierarchy(ies) :

Main resources

You can consult :

recommendations
documents concerning education
documents for patients