Arthrogryposis - renal dysfunction - cholestasis

Preferred Label : Arthrogryposis - renal dysfunction - cholestasis;

ICD-11 definition : Arthrogryposis - renal dysfunction - cholestasis (ARC) syndrome is a multisystem disorder characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with low serum gamma-glutamyl transferase activity.;

ICD-11 synonym : Familial arthrogryposis - cholestatic hepatorenal syndrome; ARC syndrome; ARC - [Arthrogryposis - renal dysfunction - cholestasis] syndrome;

Details

Origin ID

2089839503;

Automatic exact mappings (from CISMeF team)
- Familial arthrogryposis-cholestatic hepatorenal syndrome (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- ARC syndrome [DO Concept]
- Arthrogryposis with renal dysfunction and cholestasis syndrome (disorder) [SNOMED CT concept]
- Arthrogryposis, renal dysfunction, and cholestasis [OMIM phenotypic series]
- Arthrogryposis, renal dysfunction, and cholestasis 1 [OMIM Phenotype]
- Arthrogryposis-renal dysfunction-cholestasis syndrome [ORDO Disease]
- arthrogryposis renal dysfunction cholestasis syndrome [MeSH Supplementary Concept]

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