Trisomy 7p22.1

disorder

SNOMED 764703002CUI C4707093

Overview

Trisomy 7p22.1 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.

Abnormality of the auricle

Very frequent (80-99%)HP:0000356

Cardiac anomaly

Very frequent (80-99%)HP:0001627

Cognitive delay

Very frequent (80-99%)HP:0001263

Cryptorchidism

Very frequent (80-99%)HP:0000028

Funny looking face

Very frequent (80-99%)HP:0001999

Increased distance between eyes

Very frequent (80-99%)HP:0000316

Increased size of skull

Very frequent (80-99%)HP:0000256

No development of motor milestones

Very frequent (80-99%)HP:0001270

Renal anomalies

Very frequent (80-99%)HP:0000077

Skeletal anomalies

Very frequent (80-99%)HP:0000924

Speech and language difficulties

Very frequent (80-99%)HP:0000750

Related Conditions

7p partial trisomy(parent)

Recessive hereditary disorder (autosomal)(parent)

Multiple system malformation syndrome(parent)

Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT: 764703002
UMLS CUI: C4707093
Fully Specified Name: 7p22.1 microduplication 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.