Anencephaly 1 - CISMeF

Preferred Label : Anencephaly 1;

Symbol : ANPH1;

CISMeF acronym : ANPH;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : ANPH;

Description : Anencephaly is considered an extreme form of neural tube defect (182940), which has been associated with variation in several genes. The entity described here is believed to show autosomal recessive inheritance.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the tripartite motif-containing protein 36 gene (TRIM36, 609317.0001);

Prefixed ID : #206500;

Détails

Origin ID

206500;

UMLS CUI

C5561928;

Automatic exact mappings (from CISMeF team)
- Anencephaly [ACR pathology]
- Anencephaly [ACR pathology]
- congenital anomaly neurological [ICPC-2 Rubric]
- 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-11 Subcategory]
- Anencephaly [ICD-10 Sub-category (who)]
- Anencephaly [HPO term]
- Anencephaly [MedDRA Preferred Term]
- Anencephaly [NCIt concept]
- Anencephaly (disorder) [Inactive SNOMED CT concept]
- Isolated anencephaly/exencephaly [ORDO Disease]
- anencephalus [SNOMED Notion]
- anencephaly [DO Concept]
- anencephaly [Disease (Nov.)]
- anencephaly [MeSH Descriptor]
- anencephaly [MeSH concept]
DO Cross reference
- anencephaly [DO Concept]
Genes related to phenotype
- Tripartite motif-containing protein 36 [OMIM gene]
HPO term(s)
- Anencephaly [HPO term]
- Autosomal recessive inheritance [HPO term]
- Congenital onset [HPO term]
- Spina bifida [HPO term]
ORDO concept(s)
- Isolated anencephaly/exencephaly [ORDO Disease]
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 [ICD-10 Sub-category (who)]
- Anencephaly [MedDRA Preferred Term]
- Anencephaly [NCIt concept]
- Anencephaly [ICD-10 Sub-category]
- Anencephaly [HPO term]
- Anencephaly [PASCAL descriptor]
- Anencephaly [ICD-11 Subcategory]
- Fetal anencephaly (disorder) [SNOMED CT concept]
- Isolated anencephaly/exencephaly [ORDO Disease]
- anencephalus [SNOMED Notion]
- anencephaly [MeSH Descriptor]
- anencephaly [MeSH concept]
- anencephaly [DO Concept]
- anencephaly [Disease (Nov.)]
Validated automatic mappings to BTNT
- Fetal anencephaly (disorder) [SNOMED CT concept]

Position du mot-clé dans l'(les) arborescence(s) :

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