MORTALITY FORUM 2013-04-30 Q2

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Apr 30, 2013, 5:51:21 PM4/30/13

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MORTALITY FORUM 2013-04-30 Q2

Question from Colin Fischbacher, Scotland

I'm looking for a code for Pallister-Hall syndrome and wondering whether the code given by Orphanet is wrong.

Pallister-Hall syndrome is due to a mutation in the GLI3 gene and is associated with extra fingers or toes, fusion of fingers or toes, imperforate anus and other problems described here (http://ghr.nlm.nih.gov/condition/pallister-hall-syndrome). A characteristic feature of the condition is a hypothalamic hamartoma - a disorganised overgrowth of normal tissue sometimes classified as a benign tumour. I think this is the origin of the D33.0 code given by Orphanet. However there is an ICD10 index entry for hamartoma that goes to Q85.9.

If the only or main feature of the disease was the hypothalamic hamartoma I could see the case for Q85.9. However the range of manifestations might suggest Q99.8 (other specified chromosomal abnormalities). Would you agree that Orphanet's D33.0 is probably wrong?

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