Arthrogryposis with renal dysfunction and cholestasis syndrome

disorder

SNOMED 720513002CUI C4551984

Overview

Arthrogryposis with renal dysfunction and cholestasis syndrome is a disorder.

Auto-generated from clinical reference data. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Increased levels of animo acids in urine

Always present (100%)HP:0003355

Renal tubular acidosis

Always present (100%)HP:0001947

Yellowing of the skin

Always present (100%)HP:0000952

Arthrogryposis multiplex

Very frequent (80-99%)HP:0002804

Failure to thrive in first year of life

Very frequent (80-99%)HP:0001531

Abnormal alpha granules

Frequent (30-79%)HP:0012483

Abnormal platelet aggregation

Frequent (30-79%)HP:0030402

Abnormal platelet count

Frequent (30-79%)HP:0011873

Chronic diarrhoea

Frequent (30-79%)HP:0002028

Congenital bilateral hip dislocation

Frequent (30-79%)HP:0008780

Conjugated hyperbilirubinemia

Frequent (30-79%)HP:0002908

De toni-fanconi-debre syndrome

Frequent (30-79%)HP:0001994

Enlarged liver

Frequent (30-79%)HP:0002240

Epidermal hyperkeratosis

Frequent (30-79%)HP:0000962

Giant cell hepatitis shown on biopsy

Frequent (30-79%)HP:0200084

Hypoplastic or absent corpus callosum

Frequent (30-79%)HP:0007370

Ichthyosiform abnormality of the skin

Frequent (30-79%)HP:0008064

Low birth weight

Frequent (30-79%)HP:0001518

Mental-retardation

Frequent (30-79%)HP:0001249

Neonatal cholestatic liver disease

Frequent (30-79%)HP:0006566

Predisposition to infections

Frequent (30-79%)HP:0002719

Reduced renal corticomedullary differentiation

Frequent (30-79%)HP:0005565

Renal tubular dysfunction

Frequent (30-79%)HP:0000124

Atria septal defect

Occasional (5-29%)HP:0001631

Bleeding tendency

Occasional (5-29%)HP:0001892

Deafness

Occasional (5-29%)HP:0000365

Decreased fetal movement

Occasional (5-29%)HP:0001558

Decreased size of cranium

Occasional (5-29%)HP:0000252

Fewer or absent grooves in brain

Occasional (5-29%)HP:0001339

Hanging skin

Occasional (5-29%)HP:0000973

Related Conditions

Inherited disorder of bilirubin metabolism(parent)

Multiple system malformation syndrome(parent)

Neurogenic arthrogryposis multiplex congenita(parent)

Quick Facts

SNOMED CT: 720513002
UMLS CUI: C4551984
Fully Specified Name: Arthrogryposis with renal dysfunction and cholestasis syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 30

Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.