Sjögren-Larsson syndrome

Description

Sjögren-Larsson syndrome is a neurocutaneous disorder caused by an inborn error of lipid metabolism and characterised by congenital ichthyosis, intellectual deficit, and spasticity.

Index terms

Sjögren-Larsson syndrome
Fatty acid alcohol oxidoreductase deficiency

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

5C52.00 – Disorders of carnitine transport or the carnitine cycle
5C52.01 – Disorders of mitochondrial fatty acid oxidation
5C52.02 – Disorders of ketone body metabolism
5C52.0Y – Other specified inborn errors of fatty acid oxidation or ketone body metabolism
5C52.0Z – Inborn errors of fatty acid oxidation or ketone body metabolism, unspecified

Foundation entity

Sjögren-Larsson syndrome – http://id.who.int/icd/entity/418359090

Part of: 5C52.0: Inborn errors of fatty acid oxidation or ketone body metabolism › 5C52: Inborn errors of lipid metabolism › 05: Endocrine, nutritional or metabolic diseases