Preferred Label : goldenhar syndrome;
MeSH definition : Mandibulofacial dysostosis with congenital eyelid dermoids.;
MeSH synonym : oculoauriculovertebral syndrome; goldenhar disease; moeschler clarren syndrome; oculoauriculovertebral dysplasia; dysplasia, oculoauriculovertebral; dysplasias, oculoauriculovertebral; oculoauriculovertebral dysplasias; oculoauriculovertebral spectrum; oculoauriculovertebral spectrums; facioauriculovertebral sequence; facioauriculovertebral sequences; craniofacial microsomia; craniofacial microsomias; microsomia, craniofacial; microsomias, craniofacial; facioauriculovertebral dysplasia; dysplasia, facioauriculovertebral; dysplasias, facioauriculovertebral; facioauriculovertebral dysplasias; Goldenhar-Gorlin syndrome; goldenhar gorlin syndrome; Goldenhar-Gorlin syndromes; lateral facial dysplasia; dysplasia, lateral facial; dysplasias, lateral facial; facial dysplasia, lateral; facial dysplasias, lateral; lateral facial dysplasias; Oral-Mandibular-Auricular syndrome; oral mandibular auricular syndrome; Oral-Mandibular-Auricular syndromes; otomandibular dysostosis; dysostosis, otomandibular; first and second pharyngeal arch syndromes; first and second branchial arch syndrome;
CISMeF synonym : goldenhar's syndrome; syndrome, oculoauriculovertebral; disease, goldenhar; syndrome, moeschler clarren; syndrome, goldenhar; hemifacial microsomia; syndrome, Goldenhar-Gorlin; syndromes, Goldenhar-Gorlin; syndrome, Oral-Mandibular-Auricular; syndromes, Oral-Mandibular-Auricular; dysostoses, otomandibular; otomandibular dysostoses;
DeCS synonym : Hemifacial Microsomia;
Related MeSH term : goldenhar syndrome with ipsilateral radial defect; Microsomia Hemifacial Radial Defects; Oculoauriculovertebral Spectrum with Radial Defect; Hemifacial Microsomia with Radial Defects; OAVS with Radial Defect;
Wikipedia link : https://en.wikipedia.org/wiki/Goldenhar syndrome;
Origin ID : D006053;
UMLS CUI : C0265240;
- Allowable qualifiers
- Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- DO Cross reference
- HPO term
- Manual NTBT mappings (CISMeF)
- ORDO relation(s)
- Record concept(s)
- Related MeSH Supplementary Concept(s)
- See also inter- (CISMeF)
- Semantic type(s)
- UMLS correspondences (same concept)
- Validated automatic mappings to BTNT
- Validated automatic mappings to NTBT
Mandibulofacial dysostosis with congenital eyelid dermoids.
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=374
2014
false
France
French
goldenhar syndrome
scientific and technical information
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