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Coding of pituitary hormone deficiencies without genetic confirmation #143

Closed uunter98 closed 8 months ago

uunter98 commented 10 months ago

Hi, an expert from Vienna asks how to code pituitary hormone deficiencies (either all or some hormones affected) if there is no genetic confirmation but a genetic cause is practically confirmed by exclusion of other causes (i.e. clinical diagnosis of a genetic disease). Are https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=12618 or https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=12081 the correct entities? Especially ORPHA:95494 seems a bit problematic as the disease definition states "due to mutations of pituitary transcription factors involved in pituitary ontogenesis." If the mutation is not confirmed, the definition does not fit. Is using this entity for coding then still valid? I think we should update this definition anyway, because we do not usually mention etiology in definitions (please let me know if you agree, then I can do it together with Aysegul). thxxx Ursula

MCecile-US14 commented 8 months ago

Dear @Orphanet-AysegulSenol I let you look into this and the related definition/disease perimeter with @uunter98 Thank you, Marie-Cécile

uunter98 commented 8 months ago

Text issue #10205 has been created in Editorial follow up for ORPHA:95494 "Combined pituitary hormone deficiencies, genetic forms" to remove the genes from the definition. ORPHA:90695 "Non-acquired panhypopituitarism" can stay as is. Both codes are suited for the patients in question.