Ethmocephaly - CISMeF

Preferred Label : Ethmocephaly;

NCIt definition : A congenital abnormality characterized by the presence of holoprosencephaly, a proboscis, the absence of a nose and microphthalmic, close-set eyes.;

Alternative definition : CDISC: Some degree of cyclopia in which the eyes may be closely set but the snout is small. (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

C124529;

UMLS CUI

C0266680;

Currated CISMeF NLP mapping
- Ethmocephaly [HPO term]
See also inter- (CISMeF)
- Ethmocephalus (disorder) [SNOMED CT concept]
- ethmocephalus [SNOMED Notion]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Ethmocephalus (disorder) [SNOMED CT concept]
- Ethmocephaly [HPO term]
- ethmocephalus [SNOMED Notion]
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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