MORTALITY FORUM 2013-04-30 Q2 Update 1

[mortality-forum]

MORTALITY FORUM 2013-04-30 Q2 Update 1

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?
*******************
From From Luis Manuel Torres Palacios, Mexican Collaborating Center
for FIC (CEMECE)

Dear all

The Pallister-Hall syndrome must be coded as a genetic disease, maybe
in Q99.8 because there is not an specific code for this syndrome with
many congenital anomalies.
The Hamartoma or the hamartosis (overgrowths of normal tissue) are
common for some diseases like facomatosis and Pallister-Hall
Syndrome.
Because the hamartosis is a characteristic feature for this and other
genetic syndromes, in the ICD-10 is coded in Q85.8.
We think you are right and D33.0 is wrong, because D33.0 is a code for
one of its manifestations but not for the Disease.