" /> Short Limb Dwarfism-Saddle Nose-Spinal Alterations-Metaphyseal Striation Syndrome - CISMeF





Preferred Label : Short Limb Dwarfism-Saddle Nose-Spinal Alterations-Metaphyseal Striation Syndrome;

Obsolete resource : true;

NCIt definition : A rare genetic disorder characterized by bone marrow failure, spinal abnormalities, saddle nose, and metaphysical striation.;

NCIt note : See 'Spondyloepimetaphyseal Dysplasia, Sponastrime Type(C129031)';

Concept status : Retired_Concept;

Details


You can consult :


Nous contacter.
03/05/2025


[Home] [Top]

© Rouen University Hospital. Any partial or total use of this material must mention the source.