Need help coding Williams Syndrome

gap20

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Does any one know the icd-9-cm code for Williams Syndrome? I have looked through the book and cannot find this syndrome under anything.
:confused:
 

RebeccaWoodward*

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Opinions are a wonderful thing...I still remain with my original post. :)

Genetic Disorders
A.
Chromosomal Abnormality Syndromes
Down syndrome (758.0), Trisomy 13 (758.1), Trisomy 18 (758.2)
Autosomal deletion syndromes (758.3_) (includes Cri-du-chat, velo-cardio-facial, others)
Other micro-deletion syndromes (758.5) (includes Miller Dieker syndrome, Smith-Magenis syndrome)
DiGeorge Syndrome (279.11)
Fragile X (759.83)
Prader-Willi (759.81)
Other conditions due to autosomal anomalies (758.5)
Conditions due to sex chromosome anomalies, (758.81) This does not include Klinefelter's Syndrome (XXY) or Turner's Syndrome (XO)
Conditions due to anomaly of unspecified chromosome (758.9) (includes Williams Syndrome)
 

Anna Weaver

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Williams Syndrome

Looks like you could go either way on this one.

williams syndrome

noun
a rare congenital disorder associated with deletion of genetic material in chromosome 7; characterized by mental deficiency and some growth deficiency and elfin faces but an overly social personality and a remarkable gift for vocabulary

So, it does cover chromosome, but it also covers as in 759.89 congenital malformation syndromes affecting multiple systems, NEC.

So, again, this is going to be a coder choice it looks like!!! That's why I like coding. It's so definitive. LOL
 

evenstar1971

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yet another opinion :)

Since Williams Syndrome is due to deletion(s) on Chromosome 7 specifically, I am thinking "Conditions due to anomaly of unspecified chromosome (758.9)" does not really fit since the chromosome is specified..What is your opinion of 758.39 "Autosomal deletion syndromes, other autosomal deletions" for Williams Syndrome? :)
 

vj_tiwari

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Hey,

Williams syndrome (WS or WMS; also Williams–Beuren syndrome or WBS) is a rare neurodevelopmental disorder caused by a deletion of about 26 genes from the long arm of chromosome 7. It is characterized by a distinctive, "elfin" facial appearance, along with a low nasal bridge; an unusually cheerful demeanor and ease with strangers; developmental delay coupled with unusual (for persons who are diagnosed as developmentally delayed) language skills; and cardiovascular problems, such as supravalvular aortic stenosis and transient hypercalcaemia.

So, 758.9 is correct one.

VJ.
 
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