Autosomal dominant Robinow syndrome

Preferred Label : Autosomal dominant Robinow syndrome;

ICD-11 definition : Autosomal dominant Robinow syndrome (DRS) is the more common type of Robinow syndrome (RS) characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia, without rib fusions.;

Details

Origin ID

807338758;

Currated CISMeF NLP mapping
- Autosomal dominant Robinow syndrome [ORDO Disease]
- Autosomal dominant Robinow syndrome (disorder) [SNOMED CT concept]
- Robinow Syndrome [MeSH concept]
- Robinow Syndrome [MeSH Supplementary Concept]
- Robinow syndrome, autosomal dominant 1 [OMIM Phenotype]

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