Oculoauriculofrontonasal syndrome

Preferred Label : Oculoauriculofrontonasal syndrome;

Symbol : OAFNS;

CISMeF acronym : OAFNS;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Oculoauriculofrontonasal dysplasia;

Description : The OAFNS phenotype combines abnormalities of the morphogenesis of the first and second branchial arches (microtia/skin tags, epibulbar dermoids, cleft lip/palate, mandibular hypoplasia, and facial asymmetry) with malformations due to the anomalous development of the frontonasal eminence and maxillary processes (notched/bifid nasal tip, cleft lip and/or palate, and encephalocele) (Gabbett et al., 2008).;

Prefixed ID : %601452;

Details

Origin ID

601452;

UMLS CUI

C1832352;

Automatic exact mappings (from CISMeF team)
- Frontofacionasal dysplasia [ORDO Disease]
Currated CISMeF NLP mapping
- Oculoauriculofrontonasal syndrome [PASCAL descriptor]
- Oculoauriculofrontonasal syndrome [ORDO Disease]
- Oculoauriculofrontonasal syndrome [MeSH concept]
- Oculoauriculofrontonasal syndrome (disorder) [SNOMED CT concept]
- oculoauriculofrontonasal syndrome [MeSH Supplementary Concept]
ORDO concept(s)
- Oculoauriculofrontonasal syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Oculoauriculofrontonasal syndrome [MeSH concept]
- Oculoauriculofrontonasal syndrome [ORDO Disease]
- Oculoauriculofrontonasal syndrome (disorder) [SNOMED CT concept]
- oculoauriculofrontonasal syndrome [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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