Phocomelia - ectrodactyly - deafness - sinus arrhythmia

Preferred Label : Phocomelia - ectrodactyly - deafness - sinus arrhythmia;

ICD-11 definition : Phocomelia - ectrodactyly - deafness - sinus arrhythmia syndrome is characterised by phocomelia (involving arms more severely), ectrodactyly, ear anomalies (bilateral anomalies of the pinnae), conductive deafness, dysmorphism (long and prominent philtrum, mild maxillary hypoplasia) and sinus arrhythmia.;

Details

Origin ID

542598098;

Currated CISMeF NLP mapping
- Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder) [SNOMED CT concept]
- Phocomelia-ectrodactyly, ear malformation, deafness, and sinus arrhythmia [OMIM Phenotype]
- Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome [ORDO Disease]
- Stoll Levy Francfort syndrome [MeSH concept]
- stoll levy francfort syndrome [MeSH Supplementary Concept]

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