Cyclopia - CISMeF

Preferred Label : Cyclopia;

NCIt related terms : Monophthalmia; Synophthalmia; Single Eyeball;

NCIt definition : A rare congenital abnormality characterized by the failure of the embryonic prosencephalon to separate the eye orbit into two distinct cavities. Facial features tend to be absent although a proboscis has been seen to develop in conjunction.;

Alternative definition : CDISC: Single median orbit; eyeball(s) can be absent, completely or incompletely fused. (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

C124522;

UMLS CUI

C0266667;

Automatic exact mappings (from CISMeF team)
- Congenital malformation syndromes predominantly affecting facial appearance [ICD-10 Sub-category]
- Cyclopia [HRDO Sign]
- Cyclopia [HPO term]
- Cyclopia [MedDRA Preferred Term]
- Cyclopia [PASCAL descriptor]
- Cyclopia [ICD-11 More detail]
- Cyclopia (disorder) [SNOMED CT concept]
- Holoprosencephaly 1 [OMIM Phenotype]
- Synophthalmia [PASCAL descriptor]
- cyclopia sequence [MeSH concept]
- cyclopia sequence [MeSH Supplementary Concept]
- cyclopic monster, nos [SNOMED Notion]
Currated CISMeF NLP mapping
- Monophthalmos (disorder) [SNOMED CT concept]
- monophthalmos [SNOMED Notion]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Cyclopia [HPO term]
- Cyclopia [MedDRA Preferred Term]
- Cyclopia (disorder) [SNOMED CT concept]
- Holoprosencephaly 1 [OMIM Phenotype]
- Monophthalmos (disorder) [SNOMED CT concept]
- cyclopia sequence [MeSH Supplementary Concept]
- cyclopia sequence [MeSH concept]
- cyclopic monster, nos [SNOMED Notion]
- holoprosencephaly 1 [DO Concept]
- monophthalmos [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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