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Acrorenoocular syndrome

disorder
SNOMED 720415006CUI C5848304

Overview

Acrorenoocular 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.

Abnormal morphology of the radius
Very frequent (80-99%)HP:0002818
Abnormal rotation of the kidneys
Very frequent (80-99%)HP:0004712
Abnormality of the thumbs
Very frequent (80-99%)HP:0001172
Absent/underdeveloped radius
Very frequent (80-99%)HP:0006501
Crossed fused renal ectopia
Very frequent (80-99%)HP:0004736
Horseshoe kidney
Very frequent (80-99%)HP:0000085
Short distal phalanx of the thumb
Very frequent (80-99%)HP:0009650
Thumb hypoplasia
Very frequent (80-99%)HP:0009778
Bladder diverticulum
Frequent (30-79%)HP:0000015
Broad bone of big toe
Frequent (30-79%)HP:0010059
Dysplastic radii
Frequent (30-79%)HP:0006433
Hearing loss, conductive
Frequent (30-79%)HP:0000405
Hypoplasia of the ulna
Frequent (30-79%)HP:0003022
Hypoplastic optic discs
Frequent (30-79%)HP:0007766
Optic disc coloboma
Frequent (30-79%)HP:0000588
Poor vision
Frequent (30-79%)HP:0000505
Preaxial hand polydactyly
Frequent (30-79%)HP:0001177
Renal hypoplasia/aplasia
Frequent (30-79%)HP:0008678
Sensorineural deafness
Frequent (30-79%)HP:0000407
Short hallux
Frequent (30-79%)HP:0010109
Short palpebral fissure
Frequent (30-79%)HP:0012745
Space between great toe and second toe
Frequent (30-79%)HP:0001852
Squint
Frequent (30-79%)HP:0000486
Triphalangy of thumb
Frequent (30-79%)HP:0001199
Abnormal spinal segmentation
Occasional (5-29%)HP:0003422
Aganglionic megacolon
Occasional (5-29%)HP:0002251
Cataract
Occasional (5-29%)HP:0000518
Chorioretinal coloboma
Occasional (5-29%)HP:0000567
Cornea of eye less than 10mm in diameter
Occasional (5-29%)HP:0000482
Eye drop
Occasional (5-29%)HP:0000508

Quick Facts

SNOMED CT
720415006
UMLS CUI
C5848304
Fully Specified Name
Acrorenoocular 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.