Oro-facial digital syndrome type 11

disorder

SNOMED 718681002CUI C2752048

Overview

Oro-facial digital syndrome type 11 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.

Broad flat nasal bridge

Always present (100%)HP:0000431

Cleft of palate

Always present (100%)HP:0000175

Down-slanting palpebral fissure

Always present (100%)HP:0000494

Epilepsy

Always present (100%)HP:0001250

Gastroesophageal reflux disease

Always present (100%)HP:0002020

Postaxial hexadactyly

Always present (100%)HP:0100259

Potato nose

Always present (100%)HP:0000414

Small odontoid peg

Always present (100%)HP:0003311

Kyphoscoliosis

HP:0002751

Mental deficiency

HP:0001249

Related Conditions

Congenital heart disease(parent)

Hearing loss(parent)

Oral-facial-digital syndrome(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 718681002
UMLS CUI: C2752048
Fully Specified Name: Oro-facial digital syndrome type 11 (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.