Preferred Label : Cholestasis - lymphoedema syndrome;
ICD-11 definition : Cholestasis-lymphoedema syndrome is characterized by chronic severe lymphoedema and
severe neonatal cholestasis that usually lessens during early childhood and becomes
episodic. It has been described in six large families, mainly from Norway. The common
feature of this autosomal recessive condition is a generalised lymphatic anomaly.;
ICD-11 synonym : Aagenæs syndrome;
Origin ID : 1087517390;
Automatic exact mappings (from CISMeF team)
Cholestasis-lymphoedema syndrome is characterized by chronic severe lymphoedema and
severe neonatal cholestasis that usually lessens during early childhood and becomes
episodic. It has been described in six large families, mainly from Norway. The common
feature of this autosomal recessive condition is a generalised lymphatic anomaly.
