Autosomal recessive Robinow syndrome

Preferred Label : Autosomal recessive Robinow syndrome;

ICD-11 definition : Autosomal recessive Robinow syndrome (RRS) is the less common and the more severe type of Robinow syndrome (RS) characterized by short-limb dwarfism, costovertebral segmentation defects and abnormalities of the head, face and external genitalia.;

Détails

Origin ID

793292660;

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

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