Closed pnrobinson closed 9 months ago
@MickeySegal
this appears to be a general pathophysiological description rather than an observable phenotypic abnormality. If I am wrong, please provide a definition! thanks, Peter
I'm running this by the orthopedist (Hresko) to see if we can break this up into phenotypic elements or rephrase the definition.
Dr. Hresko agrees that we should instead use the observable findings so we will eliminate this bundled term. This request can be closed.
thanks!
New term request Thoracic insufficiency syndrome (hresko_220403201731): TIS; Stiffness of small chest or thorax; resulting in lung hypoplasia UMLS: 4303632