Citrullinaemia

Index terms

Citrullinaemia
ASA synthase deficiency
Argininosuccinate synthetase deficiency

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Citrullinuria
deficiency of citrulline-aspartate ligase
metabolic disorder of citrulline
Citrullinaemia type 1
Argininosuccinate synthase deficiency
CTLN1 - [Citrullinaemia type 1]
Citrullinaemia type 3
Citrullinuria type 1
Citrullinuria type 3
Classic citrullinaemia
Acute neonatal citrullinaemia type 1
Adult-onset citrullinaemia type 1
Citrin deficiency
Aspartate-glutamate carrier deficiency
Citrullinaemia type 2
Adult-onset citrin deficiency
CTLN2 - [Citrullinaemia type 2]
Citrullinuria type 2
N-acetylglutamate synthase deficiency
NAGS - [N-acetylglutamate synthase deficiency]
Neonatal intrahepatic cholestasis caused by citrin deficiency
NICCD - [Neonatal intrahepatic cholestasis caused by citrin deficiency]

Exclusions from above levels

5C50.9 – Disorders of ornithine metabolism
5C60.Y – Lysinuric protein intolerance
http://id.who.int/icd/entity/1191191920 – Disorders of lipoprotein metabolism or certain specified lipidaemias

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3A10.Z – Hereditary haemolytic anaemia due to enzyme deficiency
5A71.01 – Congenital adrenal hyperplasia
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

5C50.A0 – Argininosuccinic aciduria
5C50.A1 – Carbamoylphosphate synthetase deficiency
5C50.A2 – Argininaemia
5C50.AY – Other specified disorders of urea cycle metabolism
5C50.AZ – Disorders of urea cycle metabolism, unspecified

Foundation entity

Citrullinaemia – http://id.who.int/icd/entity/640937125

Part of: 5C50.A: Disorders of urea cycle metabolism › 5C50: Inborn errors of amino acid or other organic acid metabolism › 05: Endocrine, nutritional or metabolic diseases