Anencephaly - CISMeF

Preferred Label : Anencephaly;

NCIt related terms : Anencephalus;

NCIt definition : A rare neural tube defect during pregnancy, resulting in the absence of a large portion of the brain and skull in the fetus.;

Alternative definition : CDISC: Absence of the cranial region of the head, with the brain absent or reduced. (Makris S, Solomon HM, Clark R, Shiota K, Barbellion S, Buschmann J, Ema M, Fujiwara M, Grote K, Hazelden KP, Hew KW, Horimoto M, Ooshima Y, Parkinson M, Wise LD. Terminology of developmental abnormalities in common laboratory mammals (Version 2). Part B. Birth Defects Res B Dev Reprod Toxicol. 2009 Aug;86(4):227-327.);

Details

Origin ID

C84560;

UMLS CUI

C0002902;

Automatic exact mappings (from CISMeF team)
- Anencephaly [ACR pathology]
- Anencephaly [ACR pathology]
- congenital anomaly neurological [ICPC-2 Rubric]
Currated CISMeF NLP mapping
- ANENCEPHALY [WHO-ART Preferred Term]
- Anencephalia [MedDRA LLT]
- Anencephalus [MedDRA LLT]
- Anencephalus [ICD-9 code]
- Anencephalus (disorder) [SNOMED CT concept]
- Anencephaly [PASCAL descriptor]
- Anencephaly [ICD-10 Sub-category]
- Anencephaly [ICD-11 Subcategory]
- Anencephaly [OMIM phenotypic series]
- Anencephaly [ICD-10 Sub-category (who)]
- Anencephaly [HPO term]
- Anencephaly [MedDRA Preferred Term]
- Anencephaly (disorder) [Inactive SNOMED CT concept]
- Anencephaly 1 [OMIM Phenotype]
- Fetal anencephaly (disorder) [SNOMED CT concept]
- Isolated anencephaly/exencephaly [ORDO Disease]
- anencephalus [SNOMED Notion]
- anencephaly [DO Concept]
- anencephaly [Disease (Nov.)]
- anencephaly [MeSH Descriptor]
- anencephaly [MeSH concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- ANENCEPHALY [WHO-ART Preferred Term]
- Anencephalia [MedDRA LLT]
- Anencephalus [MedDRA LLT]
- Anencephalus [ICD-9 code]
- Anencephalus (disorder) [SNOMED CT concept]
- Anencephaly [MedDRA Preferred Term]
- Anencephaly [ICD-10 Sub-category]
- Anencephaly [HPO term]
- Anencephaly [PASCAL descriptor]
- Anencephaly [ICD-11 Subcategory]
- Anencephaly [ICD-10 Sub-category (who)]
- Anencephaly 1 [OMIM Phenotype]
- Fetal anencephaly (disorder) [SNOMED CT concept]
- Isolated anencephaly/exencephaly [ORDO Disease]
- anencephalus [SNOMED Notion]
- anencephaly [DO Concept]
- anencephaly [Disease (Nov.)]
- anencephaly [MeSH Descriptor]
- anencephaly [MeSH concept]
Validated automatic mappings to NTBT
- neural tube defects [MedlinePlus Topic]
concept_is_in_subset
- CDISC SEND Fetal Pathology Findings Result Terminology [NCIt concept]
- CDISC SEND Terminology [NCIt concept]
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- Clinical Data Interchange Standards Consortium Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients