Iniencephaly - CISMeF

Preferred Label : Iniencephaly;

NCIt definition : A rare neural tube defect characterized by extreme retroflexion of the head and severe defects of the spine. It is usually associated with other congenital anomalies.;

Alternative definition : CDISC: Exposure of occipital brain and upper spinal cord tissue involving extreme retroflection of the head. (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

C124549;

UMLS CUI

C0152234;

Automatic exact mappings (from CISMeF team)
- Iniencephaly [HPO term]
Currated CISMeF NLP mapping
- Iniencephalus [PASCAL descriptor]
- Iniencephaly [ICD-10 Sub-category]
- Iniencephaly [ORDO Disease]
- Iniencephaly [MedDRA Preferred Term]
- Iniencephaly [ICD-11 Subcategory]
- Iniencephaly [ICD-9 code]
- Iniencephaly [ICD-10 Sub-category (who)]
- Iniencephaly (disorder) [SNOMED CT concept]
- iniencephaly [MeSH concept]
- iniencephaly [SNOMED Notion]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Iniencephalus [PASCAL descriptor]
- Iniencephaly [ORDO Disease]
- Iniencephaly [ICD-10 Sub-category]
- Iniencephaly [ICD-9 code]
- Iniencephaly [MedDRA Preferred Term]
- Iniencephaly [ICD-11 Subcategory]
- Iniencephaly [HPO term]
- Iniencephaly (disorder) [SNOMED CT concept]
- iniencephaly [SNOMED Notion]
- iniencephaly [MeSH concept]
Validated automatic mappings to NTBT
- neural tube defects [MeSH Descriptor]
concept_is_in_subset
- CDISC SEND Fetal Pathology Findings Result Terminology [NCIt concept]
- CDISC SEND Terminology [NCIt concept]
- Clinical Data Interchange Standards Consortium Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]

Keyword's position in hierarchy(ies) :

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