goldenhar syndrome

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;

Details

Origin ID

D006053;

UMLS CUI

C0265240;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Congenital malformation syndromes predominantly affecting facial appearance [ICD-10 Sub-category (who)]
- Craniofacial microsomia 1 [OMIM Phenotype]
- DiGeorge sequence (disorder) [Inactive SNOMED CT concept]
- First and second branchial arch syndrome (disorder) [SNOMED CT concept]
- Goldenhar syndrome [ICD-11 More detail]
- Goldenhar syndrome [ACR pathology]
- Goldenhar syndrome [ACR pathology]
- Hemifacial hypoplasia [HPO term]
- Hemifacial microsomia [PASCAL descriptor]
- Hemifacial microsomia [ICD-11 More detail]
- Hemifacial microsomia (disorder) [SNOMED CT concept]
- Hemifacial microsomia with radial defect syndrome (disorder) [SNOMED CT concept]
- Hemifacial microsomia with radial defects [OMIM Phenotype]
- Hemifacial microsomia, other [ACR pathology]
- Oculo-auriculo-vertebral spectrum [ORDO Disease]
- Oculo-auriculo-vertebral spectrum (disorder) [SNOMED CT concept]
- Oculo-auriculo-vertebral spectrum with radial defects [ICD-11 More detail]
- Otomandibular dysostosis (disorder) [SNOMED CT concept]
- Otomandibular syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Craniofacial microsomia (disorder) [SNOMED CT concept]
- Goldenhar Syndrome [NCIt concept]
- Goldenhar syndrome [PASCAL descriptor]
- Goldenhar syndrome [DO Concept]
- Goldenhar syndrome [Disease (Nov.)]
- Goldenhar syndrome [ORDO Disease]
- Goldenhar syndrome (disorder) [SNOMED CT concept]
- Goldenhar's syndrome [MedDRA LLT]
- Oculoauriculovertebral dysplasia [MedDRA Preferred Term]
- facio-auriculo-vertebral spectrum [SNOMED Notion]
DO Cross reference
- Goldenhar syndrome [DO Concept]
HPO term
- Hemifacial hypoplasia [HPO term]
Manual NTBT mappings (CISMeF)
- Branchial arch or oral-acral syndrome [ORDO Disease]
- Bulbar conjunctival dermoid or conjunctival dermolipoma [ORDO Disease]
- Genetic branchial arch or oral-acral syndrome [ORDO Disease]
- Lens shape anomaly [ORDO Disease]
- Oculo-auriculo-vertebral spectrum [ORDO Disease]
- Other syndrome with lissencephaly as a major feature [ORDO Disease]
- Pierre Robin syndrome associated with branchial archs anomalies [ORDO Disease]
- Sucking/swallowing disorder associated with an identified syndrome [ORDO Disease]
- Syndrome or malformation associated with head and neck malformations [ORDO Disease]
- Syndrome with a central nervous system malformation as a major feature [ORDO Disease]
- Syndromic corneal dystrophy [ORDO Disease]
- Syndromic developmental defect of the eye [ORDO Disease]
- Syndromic eyelid coloboma [ORDO Disease]
ORDO relation(s)
- Goldenhar syndrome [ORDO Disease]
Record concept(s)
- Hemifacial Microsomia [MeSH concept]
- goldenhar syndrome [MeSH concept]
- goldenhar syndrome with ipsilateral radial defect [MeSH concept]
Related MeSH Supplementary Concept(s)
- axial mesodermal dysplasia spectrum [MeSH Supplementary Concept]
See also inter- (CISMeF)
- Craniofacial microsomia 1 [OMIM Phenotype]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Craniofacial microsomia (disorder) [SNOMED CT concept]
- Craniofacial microsomia 1 [OMIM Phenotype]
- Facio-auriculo-vertebral spectrum (disorder) [SNOMED CT concept]
- First and second branchial arch syndrome (disorder) [SNOMED CT concept]
- First arch syndrome (disorder) [SNOMED CT concept]
- Goldenhar Syndrome [NCIt concept]
- Goldenhar syndrome [ORDO Disease]
- Goldenhar syndrome [DO Concept]
- Goldenhar syndrome [PASCAL descriptor]
- Goldenhar syndrome [Disease (Nov.)]
- Goldenhar syndrome (disorder) [SNOMED CT concept]
- Goldenhar's syndrome [MedDRA LLT]
- Oculo-auriculo-vertebral spectrum (disorder) [SNOMED CT concept]
- Oculoauriculovertebral dysplasia [MedDRA Preferred Term]
- Otomandibular dysostosis (disorder) [SNOMED CT concept]
- facio-auriculo-vertebral spectrum [SNOMED Notion]
- first arch syndrome, nos [SNOMED Notion]
Validated automatic mappings to BTNT
- Congenital malformation syndromes predominantly affecting facial appearance [ICD-10 Sub-category]
- Oculoauriculovertebral spectrum with radial defects [ORDO Disease]
Validated automatic mappings to NTBT
- Congenital malformation syndromes predominantly affecting facial appearance [ICD-10 Sub-category (who)]

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