Pierre Robin sequence faciodigital anomaly syndrome

disorder

SNOMED 723461007CUI C2931064

Overview

Pierre Robin sequence faciodigital anomaly 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.

Cleft of palate

HP:0000175

Distal phalangeal hypoplasia

HP:0009882

Easily subluxated first metacarpophalangeal joints

HP:0005747

Frontal protuberance

HP:0002007

High forehead

HP:0000348

Hypoplastic mandible condyle

HP:0000347

Nail overcurvature

HP:0001795

Permanent curving of the pinkie finger

HP:0004209

Pierre-Robin sequence

HP:0000201

Retraction of the tongue

HP:0000162

Tapering fingers

HP:0001182

Related Conditions

Robin sequence(parent)

Congenital anomaly of digit(parent)

Developmental hereditary disorder(parent)

X-linked recessive hereditary disease(parent)

Quick Facts

SNOMED CT: 723461007
UMLS CUI: C2931064
Fully Specified Name: Pierre Robin sequence faciodigital anomaly syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 11

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.