Ring chromosome 1 syndrome

disorder

SNOMED 47017007CUI C0265395

Overview

Ring chromosome 1 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.

Abnormal distribution of hair

Very frequent (80-99%)HP:0010720

Broad flat nasal bridge

Very frequent (80-99%)HP:0000431

Curvature of little finger

Very frequent (80-99%)HP:0004209

Decreased size of cranium

Very frequent (80-99%)HP:0000252

Down-slanting palpebral fissure

Very frequent (80-99%)HP:0000494

Downturned corners of mouth

Very frequent (80-99%)HP:0002714

Eye drop

Very frequent (80-99%)HP:0000508

Feeding difficulties in infancy

Very frequent (80-99%)HP:0008872

Increased intercanthal distance

Very frequent (80-99%)HP:0000506

Increased length of philtrum

Very frequent (80-99%)HP:0000343

Intellectual impairment

Very frequent (80-99%)HP:0100543

Nostrils anteverted

Very frequent (80-99%)HP:0000463

Round, full face

Very frequent (80-99%)HP:0000311

Related Conditions

Anomaly of chromosome pair 1(parent)

Ring chromosome(parent)

Multiple system malformation syndrome(parent)

Quick Facts

SNOMED CT: 47017007
UMLS CUI: C0265395
Fully Specified Name: Ring chromosome 1 syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 13

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.