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Syndromic genetic deafness

International Classification of Diseases for Mortality and Morbidity Statistics, 11th Revision, v2024-01

code elsewhere

• CATCH 22 phenotype  (LD44.N0)
• Pendred syndrome  (5A00.02)
• Generalised resistance to thyroid hormone  (5A05)
• CHARGE syndrome  (5A61.0)
• Deafness - opticoacoustic nerve atrophy - dementia  (5C53.2Y)
• Ectodermal dysplasia - sensorineural deafness  (LD27.0Y)
• Hypoparathyroidism - deafness - renal disease  (LD27.0Y)
• Renal tubular acidosis - deafness  (GB90.44)
• Stapes ankylosis with broad thumbs and toes  (LD2F.1Y)
• Stickler syndrome  (LD2F.1Y)
• Thiamine-responsive megaloblastic anaemia syndrome  (5C63.Y)
• Mitochondrial encephalopathy with lactic acidosis and stroke-like episodes  (8C73.Y)
• Norrie disease  (LD21.Y)
• Fechtner syndrome  (3B64.01)
• Spondyloepiphyseal dysplasia, MacDermot type  (LD24.3)
• Oral-facial-digital syndrome type 1  (LD25.00)
• Oral-facial-digital syndrome type 2  (LD25.00)
• Oral-facial-digital syndrome type 3  (LD25.00)
• Oral-facial-digital syndrome type 4  (LD25.00)
• Oral-facial-digital syndrome type 6  (LD25.00)
• Oral-facial-digital syndrome type 8  (LD25.00)
• Otopalatodigital syndrome  (LD25.1)
• Kearns-Sayre syndrome  (9C82.0)
• Multiple synostoses syndrome  (LD26.3)
• Arthrogryposis-like hand anomaly - sensorineural deafness  (LD26.4Y)
• Cockayne syndrome  (LD2B)
• Keratitis – ichthyosis – deafness syndrome  (LD27.2)
• Connexin palmoplantar keratoderma with sensorineural deafness  (EC20.30)
• Deafness – enamel hypoplasia – nail defects  (LD27.0Y)
• Tietz hypomelanosis – deafness syndrome  (EC23.2Y)
• LEOPARD syndrome  (LD2F.1Y)
• Cutis verticis gyrata - retinitis pigmentosa - sensorineural deafness  (LD27.Y)
• Deafness, lymphoedema and leukaemia syndrome  (BD93.0)
• Long QT syndrome with hearing impairment  (BC65.0)
• Infantile Bartter syndrome with deafness  (GB90.43)

sections/codes in this section (LD2H-LD2H)

• Fraser syndrome  (LD2H.0)
• Neuropathy with hearing impairment  (LD2H.1)
• Progressive deafness with stapes fixation  (LD2H.2)
• Waardenburg-Shah syndrome  (LD2H.3)
• Usher syndrome  (LD2H.4)
• Other specified syndromic genetic deafness  (LD2H.Y)
• Syndromic genetic deafness, unspecified  (LD2H.Z)

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