Otocephaly - CISMeF

Preferred Label : Otocephaly;

NCIt definition : A fatal, congenital, anatomic defect of the head characterised by a total or near total absence of the lower jaw, resulting in the union or close approach of the ears on the ventral side of the neck.;

Alternative definition : CDISC: Absence or extreme underdevelopment of the lower jaw, producing closeness of the ears below the face. (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

C124568;

UMLS CUI

C0265242;

Automatic exact mappings (from CISMeF team)
- Agnathia-otocephaly complex [OMIM Phenotype]
- Other branchial cleft malformations [ICD-10 Sub-category]
- Otocephalic syndrome (disorder) [SNOMED CT concept]
- Otocephaly [MedDRA Preferred Term]
- Otocephaly [ICD-11 Category]
- agnathia-otocephaly complex [DO Concept]
- otocephalic syndrome [SNOMED Notion]
- otocephaly [MeSH concept]
- otocephaly [MeSH Supplementary Concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Agnathia-otocephaly complex [OMIM Phenotype]
- Otocephalic syndrome (disorder) [SNOMED CT concept]
- Otocephaly [MedDRA Preferred Term]
- otocephalic syndrome [SNOMED Notion]
- otocephaly [MeSH Supplementary Concept]
- otocephaly [MeSH concept]
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]

Keyword's position in hierarchy(ies) :

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