Joubert syndrome with oculorenal defect

disorder

SNOMED 721862000CUI C1855675

Overview

Joubert syndrome with oculorenal defect 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.

Corticomedullary renal cysts

Always present (100%)HP:0000108

End-stage renal disease

Always present (100%)HP:0003774

Extreme thirst

Always present (100%)HP:0001959

Increased urine output

Always present (100%)HP:0000103

Liver fibrosis

Always present (100%)HP:0001395

Low number of red blood cells or haemoglobin

Always present (100%)HP:0001903

Mental retardation, severe

Always present (100%)HP:0010864

Renal Na wasting

Always present (100%)HP:0012606

Apnea

Very frequent (80-99%)HP:0002104

Ataxia

Very frequent (80-99%)HP:0001251

Breakdown of light-sensitive cells in back of eye

Very frequent (80-99%)HP:0000556

Cerebellar vermis hypoplasia

Very frequent (80-99%)HP:0001320

Kidney damage

Very frequent (80-99%)HP:0000112

Molar tooth sign

Very frequent (80-99%)HP:0002419

Nonprogressive mental retardation

Very frequent (80-99%)HP:0001249

Peripheral hypotonia

Very frequent (80-99%)HP:0001252

Poor growth

Very frequent (80-99%)HP:0001510

Psychomotor development deficiency

Very frequent (80-99%)HP:0001263

Tachypnea

Very frequent (80-99%)HP:0002789

Autism spectrum disorder

Frequent (30-79%)HP:0000729

Behavioural disorders

Frequent (30-79%)HP:0000708

Blood in urine

Frequent (30-79%)HP:0000790

Chorioretinal coloboma

Frequent (30-79%)HP:0000567

Cirrhosis

Frequent (30-79%)HP:0001394

Decreased width of the skull

Frequent (30-79%)HP:0004422

Eye drop

Frequent (30-79%)HP:0000508

Fatty liver

Frequent (30-79%)HP:0001397

High blood pressure

Frequent (30-79%)HP:0000822

Involuntary, rapid, rhythmic eye movements

Frequent (30-79%)HP:0000639

Iris coloboma

Frequent (30-79%)HP:0000612

Related Conditions

Retinal disorder(parent)

Nephronophthisis(parent)

Hereditary disorder of the visual system(parent)

Joubert syndrome(parent)

Quick Facts

SNOMED CT: 721862000
UMLS CUI: C1855675
Fully Specified Name: Joubert syndrome with oculorenal defect (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.