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Infantile nephropathic cystinosis

disorder
SNOMED 62332007CUI C3537440

Overview

Infantile nephropathic cystinosis 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.

Blindness
Always present (100%)HP:0000618
Blood in urine
Always present (100%)HP:0000790
Bone marrow cystine accumulation
Always present (100%)HP:6001033
Decreased body height
Always present (100%)HP:0004322
Elevated leukocyte cystine
Always present (100%)HP:0032639
End-stage renal disease
Always present (100%)HP:0003774
Failure to thrive in first year of life
Always present (100%)HP:0001531
Hypomagnesemia
Always present (100%)HP:0002917
Hyponatremia
Always present (100%)HP:0002902
Hypopigmentation of hair
Always present (100%)HP:0005599
Hypopigmentation of the skin
Always present (100%)HP:0001010
Impaired galactose metabolism
Always present (100%)HP:0004915
Kidney stones
Always present (100%)HP:0000787
Medullary nephrocalcinosis
Always present (100%)HP:0012408
Mental and motor retardation
Always present (100%)HP:0001263
Proteinuria
Always present (100%)HP:0000093
Reduced blood urea nitrogen
Always present (100%)HP:0031969
Weight loss
Always present (100%)HP:0001824
Abnormal hepatic glycogen storage
Very frequent (80-99%)HP:0500030
Abnormal urinary amino-acid findings
Very frequent (80-99%)HP:0003355
Abnormality of ion homeostasis
Very frequent (80-99%)HP:0003111
Abnormality of vitamin D metabolism
Very frequent (80-99%)HP:0100511
Acidosis
Very frequent (80-99%)HP:0001941
Corneal deposits
Very frequent (80-99%)HP:0000531
De toni-fanconi-debre syndrome
Very frequent (80-99%)HP:0001994
Dehydration
Very frequent (80-99%)HP:0001944
Dyschezia
Very frequent (80-99%)HP:0002019
Extreme thirst
Very frequent (80-99%)HP:0001959
Galactose intolerance
Very frequent (80-99%)HP:0004919
Glucose in urine
Very frequent (80-99%)HP:0003076

Related Conditions

De Toni-Fanconi syndrome(child)
Cystinosis(parent)
Connective tissue hereditary disorder(parent)
Hereditary nephropathy(parent)
Tubulo-interstitial nephritis(parent)
Metabolic renal disease(parent)

Quick Facts

SNOMED CT
62332007
UMLS CUI
C3537440
Fully Specified Name
Infantile 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.