720513002: Arthrogryposis with renal dysfunction and cholestasis syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Deformity\Congenital deformity\Arthrogryposis\Inherited arthrogryposis\Neurogenic arthrogryposis multiplex congenita\Arthrogryposis with renal dysfunction and cholestasis syndrome
• \Deformity\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Neurogenic arthrogryposis multiplex congenita\Arthrogryposis with renal dysfunction and cholestasis syndrome
• \Finding of movement\Finding of joint movement\Finding of range of joint movement\Joint movement absent\Neurogenic arthrogryposis multiplex congenita\Arthrogryposis with renal dysfunction and cholestasis syndrome
• \Finding of movement\Finding of joint movement\Finding of range of joint movement\Limitation of joint movement\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Neurogenic arthrogryposis multiplex congenita\Arthrogryposis with renal dysfunction and cholestasis syndrome
• \Finding of movement\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Neurogenic arthrogryposis multiplex congenita\Arthrogryposis with renal dysfunction and cholestasis syndrome
• \Disease\Disorder of joint region\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Neurogenic arthrogryposis multiplex congenita\Arthrogryposis with renal dysfunction and cholestasis syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited disorder of bilirubin metabolism\Arthrogryposis with renal dysfunction and cholestasis syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Inherited arthrogryposis\Neurogenic arthrogryposis multiplex congenita\Arthrogryposis with renal dysfunction and cholestasis syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Neurogenic arthrogryposis multiplex congenita\Arthrogryposis with renal dysfunction and cholestasis syndrome
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited disorder of bilirubin metabolism\Arthrogryposis with renal dysfunction and cholestasis syndrome
• \Disease\Metabolic disease\Disorder of porphyrin metabolism\Bilirubin metabolism disorder\Inherited disorder of bilirubin metabolism\Arthrogryposis with renal dysfunction and cholestasis syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Arthrogryposis with renal dysfunction and cholestasis syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital deformity\Arthrogryposis\Inherited arthrogryposis\Neurogenic arthrogryposis multiplex congenita\Arthrogryposis with renal dysfunction and cholestasis syndrome
• \Disease\Congenital disease\Inborn error of metabolism\Inherited disorder of bilirubin metabolism\Arthrogryposis with renal dysfunction and cholestasis syndrome
• \Disease\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Neurogenic arthrogryposis multiplex congenita\Arthrogryposis with renal dysfunction and cholestasis syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\Inherited arthrogryposis\Neurogenic arthrogryposis multiplex congenita\Arthrogryposis with renal dysfunction and cholestasis syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Arthrogryposis with renal dysfunction and cholestasis syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital deformity\Arthrogryposis\Inherited arthrogryposis\Neurogenic arthrogryposis multiplex congenita\Arthrogryposis with renal dysfunction and cholestasis syndrome

Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3321088016	Arthrogryposis with renal dysfunction and cholestasis syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3321089012	Arthrogryposis with renal dysfunction and cholestasis syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3321090015	ARC (arthrogryposis, renal dysfunction, cholestasis) syndrome	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3321091016	A multisystem disorder with characteristics of neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with low serum gamma-glutamyl transferase activity. The phenotype is variable, even within the same family and cases may go undiagnosed as not all the patients present with the three cardinal features. Mutations in the VPS33B gene (15q26.1) have been found in 75% of ARC families, as well as mutations in the VIPAR gene (C14ORF133), encoding a protein that complexes with VPS33B. Most patients die within the first year of life despite supportive care for metabolic acidosis and cholestasis and those surviving longer show cirrhosis and severe developmental delay.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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