Type I renal tubular acidosis

disorder

SNOMED 236461000CUI C1704380

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.

Impaired urinary acidification

Always present (100%)HP:0031033

Alkaline urine

Very frequent (80-99%)HP:0032944

Chronic metabolic acidosis

Very frequent (80-99%)HP:0001996

Decreased bone mineral density Z score

Very frequent (80-99%)HP:0004349

Decreased serum HCO3 concentration

Very frequent (80-99%)HP:0032066

Hyperchloremic metabolic acidosis

Very frequent (80-99%)HP:0004918

Hypocitraturia

Very frequent (80-99%)HP:0012405

Low blood potassium levels

Very frequent (80-99%)HP:0002900

Nephrocalcinosis

Very frequent (80-99%)HP:0000121

Decreased body height

Frequent (30-79%)HP:0004322

High urine phosphate levels

Frequent (30-79%)HP:0003109

Hypercalciuria

Frequent (30-79%)HP:0002150

Hypermagnesiuria

Frequent (30-79%)HP:0012608

Kidney stones

Frequent (30-79%)HP:0000787

Muscle weakness

Frequent (30-79%)HP:0001324

Postnatal failure to thrive

Frequent (30-79%)HP:0001508

Renal potassium wasting

Frequent (30-79%)HP:0000128

Very poor growth

Frequent (30-79%)HP:0001510

Abnormal urinary amino-acid findings

Occasional (5-29%)HP:0003355

Bone pain

Occasional (5-29%)HP:0002653

Decreased glomerular filtration rate

Occasional (5-29%)HP:0012213

Dehydration

Occasional (5-29%)HP:0001944

Diarrhea

Occasional (5-29%)HP:0002014

Dilated vestibular aqueduct

Occasional (5-29%)HP:0011387

Dyschezia

Occasional (5-29%)HP:0002019

Extreme thirst

Occasional (5-29%)HP:0001959

Increased creatinine

Occasional (5-29%)HP:0003259

Increased susceptibility to fractures

Occasional (5-29%)HP:0002659

Intermittent painful muscle spasms

Occasional (5-29%)HP:0011964

Low-molecular-weight proteinuria

Occasional (5-29%)HP:0003126

Related Conditions

Distal renal tubular acidosis co-occurrent with sensorineural deafness(child)

Renal tubular acidosis(parent)

Quick Facts

SNOMED CT: 236461000
UMLS CUI: C1704380
Fully Specified Name: Distal renal tubular acidosis (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.