Hemifacial microsomia with radial defects

Preferred Label : Hemifacial microsomia with radial defects;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Goldenhar syndrome with ipsilateral radial defect; Oculoauriculovertebral spectrum with radial defect; Oavs with radial defect;

Inheritance : Autosomal dominant; ? same as Goldenhar syndrome;

Prefixed ID : %141400;

Details

Origin ID

141400;

UMLS CUI

C0220681;

Automatic exact mappings (from CISMeF team)
- Oculo-auriculo-vertebral spectrum with radial defects [ICD-11 More detail]
- goldenhar syndrome [MeSH Descriptor]
- goldenhar syndrome [MeSH concept]
Currated CISMeF NLP mapping
- Hemifacial microsomia with radial defect syndrome (disorder) [SNOMED CT concept]
- Oculoauriculovertebral spectrum with radial defects [ORDO Disease]
- goldenhar syndrome with ipsilateral radial defect [MeSH concept]
HPO term(s)
- Atresia of the external auditory canal [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cleft palate [HPO term]
- Complete duplication of thumb phalanx [HPO term]
- Conductive hearing impairment [HPO term]
- Facial asymmetry [HPO term]
- Hemifacial hypoplasia [HPO term]
- Microtia [HPO term]
- Microtia [HPO term]
- Multiple preauricular ear tags and pits [HPO term]
- Non-midline cleft lip [HPO term]
- Oral cleft [HPO term]
- Preauricular pit [HPO term]
- Preauricular skin tag [HPO term]
- Short mandibular rami [HPO term]
- Triphalangeal thumb [HPO term]
ORDO concept(s)
- Oculoauriculovertebral spectrum with radial defects [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hemifacial microsomia with radial defect syndrome (disorder) [SNOMED CT concept]
- Oculoauriculovertebral spectrum with radial defects [ORDO Disease]
- goldenhar syndrome with ipsilateral radial defect [MeSH concept]

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