Cat eye syndrome

disorder

SNOMED 26445008CUI C0265493

Overview

Cat eye 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.

Absent anus

Very frequent (80-99%)HP:0002023

Preauricular fistulas

Very frequent (80-99%)HP:0004467

Preauricular skin tags

Very frequent (80-99%)HP:0000384

Abnormal localization of kidney

Frequent (30-79%)HP:0100542

Abnormality of cardiovascular system morphology

Frequent (30-79%)HP:0030680

Cleft of palate

Frequent (30-79%)HP:0000175

Coloboma of choroid

Frequent (30-79%)HP:0000567

Decreased body height

Frequent (30-79%)HP:0004322

Developmental dysplasia of the hip

Frequent (30-79%)HP:0001385

Down-slanting palpebral fissure

Frequent (30-79%)HP:0000494

Hydronephrosis

Frequent (30-79%)HP:0000126

Hypoplastic mandible

Frequent (30-79%)HP:0000347

Increased distance between eyes

Frequent (30-79%)HP:0000316

Intrauterine growth retardation, IUGR

Frequent (30-79%)HP:0001511

Low-set ears

Frequent (30-79%)HP:0000369

Mental retardation, mild

Frequent (30-79%)HP:0001256

Muscular hypotonia

Frequent (30-79%)HP:0001252

Palpebronasal fold

Frequent (30-79%)HP:0000286

Rectal fistula

Frequent (30-79%)HP:0100590

Renal hypoplasia/aplasia

Frequent (30-79%)HP:0008678

Rib anomalies

Frequent (30-79%)HP:0000772

Abnormality of the reproductive system

Occasional (5-29%)HP:0000078

Atresia of bile ducts

Occasional (5-29%)HP:0005912

Atria septal defect

Occasional (5-29%)HP:0001631

Hypoacusis

Occasional (5-29%)HP:0000365

Intestinal malrotation

Occasional (5-29%)HP:0002566

Nanophthalmos

Occasional (5-29%)HP:0000568

Narrowing of anal opening

Occasional (5-29%)HP:0002025

PDA

Occasional (5-29%)HP:0001643

Pulmonary stenosis

Occasional (5-29%)HP:0001642

Related Conditions

Partial trisomy of chromosome 22(parent)

Multiple system malformation syndrome(parent)

Quick Facts

SNOMED CT: 26445008
UMLS CUI: C0265493
Fully Specified Name: Cat eye 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.