Juvenile nephropathic cystinosis

disorder

SNOMED 22830006CUI C0268626

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

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

Elevated intracellular cystine

Always present (100%)HP:0003358

Cornela disease

Very frequent (80-99%)HP:0000481

Abnormal urinary amino-acid findings

Frequent (30-79%)HP:0003355

Corneal deposits

Frequent (30-79%)HP:0000531

De toni-fanconi-debre syndrome

Frequent (30-79%)HP:0001994

Eye pain

Frequent (30-79%)HP:0200026

Glucose in urine

Frequent (30-79%)HP:0003076

Low-molecular-weight proteinuria

Frequent (30-79%)HP:0003126

Photophobia

Frequent (30-79%)HP:0000613

Proteinuria

Frequent (30-79%)HP:0000093

Renal failure

Frequent (30-79%)HP:0000083

Selective proximal tubular damage

Frequent (30-79%)HP:0000114

Vomiting

Frequent (30-79%)HP:0002013

Abnormal urine potassium concentration

Occasional (5-29%)HP:0012598

CKD

Occasional (5-29%)HP:0012622

Deficient in vitamin D

Occasional (5-29%)HP:0100512

Elevated alkaline phosphatase of bone origin

Occasional (5-29%)HP:0010639

Elevated leukocyte cystine

Occasional (5-29%)HP:0032639

End-stage renal disease

Occasional (5-29%)HP:0003774

Extreme thirst

Occasional (5-29%)HP:0001959

Hyponatremia

Occasional (5-29%)HP:0002902

Hypophosphataemia

Occasional (5-29%)HP:0002148

Hypothyroidism

Occasional (5-29%)HP:0000821

Increased creatinine

Occasional (5-29%)HP:0003259

Loss of appetite

Occasional (5-29%)HP:0004396

Low blood calcium levels

Occasional (5-29%)HP:0002901

Low blood potassium levels

Occasional (5-29%)HP:0002900

Low blood uric acid levels

Occasional (5-29%)HP:0003537

Microhematuria

Occasional (5-29%)HP:0002907

Retarded growth

Occasional (5-29%)HP:0001510

Related Conditions

Cystinosis(parent)

Quick Facts

SNOMED CT: 22830006
UMLS CUI: C0268626
Fully Specified Name: Juvenile nephropathic cystinosis (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.