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26 sie 2016 · Bardet-Biedl syndrome is a ciliopathy with protean manifestations. Juvenile-onset pigmentary degeneration of the retina occurs in the vast majority of patients and is typically rod-cone, with atypical
1 paź 2016 · ICD 10 code for Carpal tunnel syndrome, bilateral upper limbs. Get free rules, notes, crosswalks, synonyms, history for ICD-10 code G56.03.
This review describes the etiology, pathophysiology, and ocular and systemic findings in Bardet-Biedl syndrome (BBS). Bardet-Biedl syndrome (BBS) is a rare, autosomal recessive genetic disorder that can lead to dysfunction of multiple organ systems, including the kidneys, genitalia, brain, and eye.
31 lip 2024 · Bardet-Biedl syndrome (BBS) (OMIM#209901; ORPHA: 110) is an emblematic ciliopathy affecting multiple organs and requiring multidisciplinary care from early life on. BBS is a highly...
Bardet–Biedl syndrome (BBS) is a ciliopathic human genetic disorder that produces many effects and affects many body systems. It is characterized by rod/cone dystrophy, polydactyly, central obesity, hypogonadism, and kidney dysfunction in some cases. [2]
Bardet-Biedl syndrome (BBS) is an inherited condition that affects many parts of the body. People with this syndrome have progressive visual impairment due to cone-rod dystrophy; extra fingers or toes (polydactyly); truncal obesity; decreased function of the male gonads (hypogonadism); kidney abnormalities; and learning difficulties.
ICD-10. ICD-10. A00-B99 Wybrane choroby zakaźne i pasożytnicze. C00-D48 Nowotwory. D50-D89 Choroby krwi i narządów krwiotwórczych oraz wybrane choroby przebiegające z udziałem mechanizmów immunologicznych. E00-E90 Zaburzenia wydzielania wewnętrznego, stanu odżywienia i przemian metabolicznych.
