IVIC (Instituto Venezolano de Investigaciones Cientificas) syndrome

disorder

SNOMED 722019000CUI C1327918

Overview

IVIC (Instituto Venezolano de Investigaciones Cientificas) 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.

Short femur

Always present (100%)HP:0003097

Deafness

Very frequent (80-99%)HP:0000365

Radial ray hypoplasia

Very frequent (80-99%)HP:0002984

Short stature, severe

Very frequent (80-99%)HP:0003510

Squint

Very frequent (80-99%)HP:0000486

Stiff joint

Very frequent (80-99%)HP:0001387

Abnormal dermatoglyphics

Frequent (30-79%)HP:0007477

Absent thumb

Frequent (30-79%)HP:0009777

Cobb angle greater than ten degrees

Frequent (30-79%)HP:0002650

Fused wrist bones

Frequent (30-79%)HP:0009702

Fusion of wrist bones

Frequent (30-79%)HP:0005048

Hypoplasia involving bones of the upper limbs

Frequent (30-79%)HP:0009824

Paroxysmal tonic upgaze

Frequent (30-79%)HP:0033980

Thumb hypoplasia

Frequent (30-79%)HP:0009778

Triphalangy of thumb

Frequent (30-79%)HP:0001199

Anal atresia

Occasional (5-29%)HP:0002023

Aplastic clavicle

Occasional (5-29%)HP:0006660

Cardiac arrhythmias

Occasional (5-29%)HP:0011675

Decreased thenar eminence

Occasional (5-29%)HP:0001245

Frontal protuberance

Occasional (5-29%)HP:0002007

Increased total leukocyte count

Occasional (5-29%)HP:0001974

Low platelet count

Occasional (5-29%)HP:0001873

Polydactyly, preaxial

Occasional (5-29%)HP:0100258

Preaxial hand polydactyly

Occasional (5-29%)HP:0001177

Rectovaginal fistula

Occasional (5-29%)HP:0000143

Short clavicles

Occasional (5-29%)HP:0000894

Short ulna

Occasional (5-29%)HP:0003022

PDA

Very rare (1-4%)HP:0001643

Tetrology of fallot

Very rare (1-4%)HP:0001636

CPEO

HP:0000544

Related Conditions

Autosomal dominant hereditary disorder(parent)

Multiple malformation syndrome with limb defect as major feature(parent)

Congenital anomaly of upper limb(parent)

Dysostosis(parent)

Hereditary disorder of musculoskeletal system(parent)

Developmental hereditary disorder(parent)

Hearing loss associated with syndrome(parent)

Mixed conductive and sensorineural hearing loss, bilateral(parent)

Congenital mixed conductive and sensorineural hearing loss(parent)

Congenital dysplasia of limb(parent)

Abnormal upper limb bone morphology(parent)

Hereditary hearing loss(parent)

Quick Facts

SNOMED CT: 722019000
UMLS CUI: C1327918
Fully Specified Name: Oculootoradial 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.