5C54.2

ICD-11 MMS 2026-01

Disorders of multiple glycosylation or other pathways

Index terms

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

Exclusions from above levels

  • http://id.who.int/icd/entity/1191191920 – Disorders of lipoprotein metabolism or certain specified lipidaemias
  • 3A10.Z – Hereditary haemolytic anaemia due to enzyme deficiency
  • 5A71.01 – Congenital adrenal hyperplasia
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  • 5A81.1 – 5-alpha-reductase deficiency
  • LD28.01 – Marfan syndrome
  • LD28.1 – Ehlers-Danlos syndrome
  • LD2A.4 – androgen resistance syndrome
  • 18 – Pregnancy, childbirth or the puerperium
  • http://id.who.int/icd/entity/1004987305 – Transitory endocrine or metabolic disorders specific to fetus or newborn

Sibling codes

  • 5C54.0 – Disorders of protein N-glycosylation
  • 5C54.1 – Disorders of protein O-glycosylation
  • 5C54.Y – Other specified inborn errors of glycosylation or other specified protein modification
  • 5C54.Z – Inborn errors of glycosylation or protein modification, unspecified

Foundation entity

Disorders of multiple glycosylation or other pathways – http://id.who.int/icd/entity/684473574

Part of: 5C54: Inborn errors of glycosylation or other specified protein modification › 05: Endocrine, nutritional or metabolic diseases