Peroxisomal diseases

Description

Peroxisomal disorders represent a class of medical conditions caused by defects in peroxisome functions. This may be due to defects in single enzymes important for peroxisome function or in peroxins, proteins encoded by PEX genes that are critical for normal peroxisome assembly and biogenesis.

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

5C57.0 – Disorders of peroxisome biogenesis
5C57.1 – Disorders of peroxisomal alpha-, beta- or omega-oxidation
5C57.Y – Other specified peroxisomal diseases
5C57.Z – Peroxisomal diseases, unspecified

Foundation children elsewhere

5C51.20 – Primary hyperoxaluria type 1
8A44.1 – Adrenoleukodystrophy

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
5C54 – Inborn errors of glycosylation or other specified protein modification
5C55 – Inborn errors of purine, pyrimidine or nucleotide metabolism
5C56 – Lysosomal 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

Peroxisomal diseases – http://id.who.int/icd/entity/782299726

Part of: 05: Endocrine, nutritional or metabolic diseases