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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

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.

Trisomy 7p22.1 — Symptoms, Testing & Specialists | Ltrl | Ltrl