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rhizomelic chondrodysplasia punctata

Medical Definition

An autosomal recessive inherited peroxisomal disorder caused by mutations in the pex7, dhapat, and agp genes. it is characterized by short limbs, bones and cartilage abnormalities, congenital cataracts, and severe mental retardation.
Related Codes (1)
Code
Description
Billable
Details
E71.540Rhizomelic chondrodysplasia punctata
Type 1 Excludes (1)

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