Nail-Patella Syndrome
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📋Overview
Nail-Patella Syndrome (NPS) is a rare genetic disorder characterized by abnormalities of the nails, kneecaps (patellae), elbows, and pelvis. It is caused by mutations in the LMX1B gene and is also known as hereditary onycho-osteodysplasia. The condition affects multiple body systems, primarily the musculoskeletal system and kidneys.
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Medical codes (for reference)
UMLS CUI: C0027341ICD-10-CM
Q87.2
MeSH
D009261
SNOMED CT (US)
22199006
Codes are provided for reference and interoperability. They are not a diagnosis.
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