anencephaly - CISMeF

Preferred Label : anencephaly;

MeSH definition : A malformation of the nervous system caused by failure of the anterior neuropore to close. Infants are born with intact spinal cords, cerebellums, and brainstems, but lack formation of neural structures above this level. The skull is only partially formed but the eyes are usually normal. This condition may be associated with folate deficiency. Affected infants are only capable of primitive (brain stem) reflexes and usually do not survive for more than two weeks. (From Menkes, Textbook of Child Neurology, 5th ed, p247);

MeSH synonym : anencephalia; absence of brain, congenital; anencephalias; brain congenital absence; anencephalus; congenital absence of brain;

MeSH hyponym : incomplete anencephaly; aprosencephaly; Anencephaly, Incomplete; Partial Anencephaly; Anencephalies, Partial; Anencephaly, Partial; Partial Anencephalies; Hemicranial Anencephaly; Anencephaly, Hemicranial; Aprosencephalies;

Wikipedia link : https://en.wikipedia.org/wiki/Anencephaly;

Details

Origin ID

D000757;

UMLS CUI

C0002902;

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)
- Anencephaly [ACR pathology]
- Anencephaly [ACR pathology]
- Anencephaly without rachischisis [ICD-11 More detail]
- Aprosencephaly [ICD-11 More detail]
- Aprosencephaly [ORDO Disease]
- Aprosencephaly syndrome [OMIM Phenotype]
- Congenital absence of part of brain (disorder) [SNOMED CT concept]
- Hemianencephaly [ICD-11 More detail]
- Hemianencephaly (disorder) [SNOMED CT concept]
- Hydranencephaly (disorder) [SNOMED CT concept]
- Incomplete anencephaly (disorder) [SNOMED CT concept]
- Other reduction deformities of brain [ICD-10 Sub-category (who)]
- congenital absence of part of brain [SNOMED Notion]
- congenital anomaly neurological [ICPC-2 Rubric]
- hemianencephaly [SNOMED Notion]
- hydranencephaly [SNOMED Notion]
- neural tube defects [MedlinePlus Topic]
Currated CISMeF NLP mapping
- ANENCEPHALY [WHO-ART Preferred Term]
- Anencephalia [MedDRA LLT]
- Anencephalus [ICD-9 code]
- Anencephalus [MedDRA LLT]
- Anencephalus (disorder) [SNOMED CT concept]
- Anencephaly [PASCAL descriptor]
- Anencephaly [ICD-10 Sub-category]
- Anencephaly [ICD-10 Sub-category (who)]
- Anencephaly [ICD-11 Subcategory]
- Anencephaly [MedDRA Preferred Term]
- Anencephaly [OMIM phenotypic series]
- Anencephaly [NCIt concept]
- Anencephaly [HPO term]
- Anencephaly (disorder) [Inactive SNOMED CT concept]
- Anencephaly 1 [OMIM Phenotype]
- Aprosencephaly [NCIt concept]
- Aprosencephaly (disorder) [SNOMED CT concept]
- Isolated anencephaly/exencephaly [ORDO Disease]
- anencephalus [SNOMED Notion]
- anencephaly [DO Concept]
- anencephaly [Disease (Nov.)]
DO Cross reference
- anencephaly [DO Concept]
False automatic mappings
- Aprosencephaly [HPO term]
HPO term
- Anencephaly [HPO term]
- Aprosencephaly [HPO term]
Localisation(s) d'après SNOMED CT
- brain [MeSH Descriptor]
Manual NTBT mappings (CISMeF)
- Multiple congenital anomalies/dysmorphic syndrome-intellectual disability [ORDO Disease]
- Rare genetic syndromic intellectual disability [ORDO Disease]
- Rare syndromic intellectual disability [ORDO Disease]
MedlinePlus topic(s)
- neural tube defects [MedlinePlus Topic]
Record concept(s)
- anencephaly [MeSH concept]
- aprosencephaly [MeSH concept]
- incomplete anencephaly [MeSH concept]
Related MeSH Supplementary Concept(s)
- XK aprosencephaly [MeSH Supplementary Concept]
- anencephaly and spina bifida X-linked [MeSH Supplementary Concept]
- aprosencephaly and cerebellar dysgenesis [MeSH Supplementary Concept]
- neural tube defect, folate-sensitive [MeSH Supplementary Concept]
See also
- alpha-Fetoproteins [MeSH Descriptor]
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 [ICD-10 Sub-category (who)]
- Anencephaly [PASCAL descriptor]
- Anencephaly [ICD-11 Subcategory]
- Anencephaly [NCIt 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.)]

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