Inborn errors of glycosylation or other specified protein modification

Description

Congenital Disorders of Glycosylation (CDG) syndromes are a group of glycoprotein synthesis disorders characterised by neurological manifestations that can be associated with multivisceral involvement. The CDG syndromes are associated with different enzymatic deficits.

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

Child codes

5C54.0 – Disorders of protein N-glycosylation
5C54.1 – Disorders of protein O-glycosylation
5C54.2 – Disorders of multiple glycosylation or other pathways
5C54.Y – Other specified inborn errors of glycosylation or other specified protein modification
5C54.Z – Inborn errors of glycosylation or protein modification, unspecified

Sibling codes

5C50 – Inborn errors of amino acid or other organic acid metabolism
5C51 – Inborn errors of carbohydrate metabolism
5C52 – Inborn errors of lipid metabolism
5C53 – Inborn errors of energy metabolism
5C55 – Inborn errors of purine, pyrimidine or nucleotide metabolism
5C56 – Lysosomal diseases
5C57 – Peroxisomal diseases
5C58 – Inborn errors of porphyrin or heme metabolism
5C59 – Inborn errors of neurotransmitter metabolism
5C5A – Alpha-1-antitrypsin deficiency
5C5Y – Other specified inborn errors of metabolism
5C5Z – Inborn errors of metabolism, unspecified

Foundation entity

Inborn errors of glycosylation or other specified protein modification – http://id.who.int/icd/entity/85138870

Part of: 05: Endocrine, nutritional or metabolic diseases