Cataract with aberrant oral frenula and growth delay syndrome

disorder

SNOMED 715988005CUI C4274900

Overview

Cataract with aberrant oral frenula and growth delay 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.

Cavernous haemangioma

Frequent (30-79%)HP:0001048

Decreased body height

Frequent (30-79%)HP:0004322

Extra oral frenum

Frequent (30-79%)HP:0000191

Eyelid ptosis

Frequent (30-79%)HP:0000508

High-grade hypermetropia

Frequent (30-79%)HP:0008499

Inguinal hernia

Frequent (30-79%)HP:0000023

Lens opacities

Frequent (30-79%)HP:0000518

Palpebronasal fold

Frequent (30-79%)HP:0000286

Posteriorly angulated ears

Frequent (30-79%)HP:0000358

Umbilical hernia

Frequent (30-79%)HP:0001537

Related Conditions

Autosomal dominant hereditary disorder(parent)

Multiple malformation syndrome with facial defects as major feature(parent)

Congenital cataract(parent)

Small stature(parent)

Hereditary disorder of the visual system(parent)

Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT: 715988005
UMLS CUI: C4274900
Fully Specified Name: Cataract with aberrant oral frenula and growth delay syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 10

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.