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5C54.2 Disorders of multiple glycosylation or other pathways

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

code elsewhere

• Hereditary inclusion body myositis  (4A41.20)

synonyms

• Disorders of multiple glycosylation or other pathways
• Dolichol-phosphate-mannose synthase 1 deficiency
• GDP-Man: Dol-P-mannosyltransferase deficiency
• Carbohydrate deficient glycoprotein syndrome type 1E
• Congenital disorder of glycosylation type 1E
• CDG - [Congenital disorder of glycosylation] syndrome type 1E
• Mannose-P-dolichol utilisation defect 1
• Lec35 deficiency
• Carbohydrate deficient glycoprotein syndrome type 1F
• Congenital disorder of glycosylation type 1F
• CDG - [Congenital disorder of glycosylation] syndrome type 1F
• Beta-1,4-galactosyltransferase deficiency
• Carbohydrate deficient glycoprotein syndrome type 2D
• Congenital disorder of glycosylation type 2D
• CDG - [Congenital disorder of glycosylation] syndrome type 2D
• CMP-sialic acid transporter deficiency
• CDG - [Congenital disorder of glycosylation] syndrome type 2F
• Carbohydrate deficient glycoprotein syndrome type 2F
• Congenital disorder of glycosylation type 2F
• Leukocyte adhesion deficiency type 2
• Rambam-Hasharon syndrome
• GDP-fucose transporter deficiency
• LAD-II - [Leukocyte adhesion deficiency type 2]
• CDG - [Congenital disorder of glycosylation] syndrome type 2C
• Dolichol kinase deficiency
• Hypotonia or ichthyosis due to dolichol phosphate deficiency
• Carbohydrate deficient glycoprotein syndrome type 1M
• Congenital disorder of glycosylation type 1M
• CDG - [Congenital disorder of glycosylation] syndrome type 1M
• Conserved oligomeric Golgi complex deficiencies
• Component of conserved oligomeric Golgi complex 1 deficiency
• CDG syndrome type 2G
• Component of conserved oligomeric Golgi complex 4 deficiency
• CDG - [Congenital disorder of glycosylation] syndrome type 2J
• Congenital disorder of glycosylation type 2J
• Component of conserved oligomeric Golgi complex 5 deficiency
• Component of conserved oligomeric Golgi complex 7 deficiency
• Carbohydrate deficient glycoprotein syndrome type 2E
• Congenital disorder of glycosylation type 2E
• CDG - [Congenital disorder of glycosylation] syndrome type 2E
• Component of conserved oligomeric Golgi complex 8 deficiency
• Congenital disorder of glycosylation type 2h
• Carbohydrate deficient glycoprotein syndrome type 2H
• CDG - [[Congenital disorder of glycosylation] syndrome type 2H
• V-ATPase deficiencies

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