Non-telomeric trisomy 10q

disorder

SNOMED 770666006CUI C4749376

Overview

Non-telomeric trisomy 10q 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 chromosome segregation

Very frequent (80-99%)HP:0002916

Blepharophimosis

Very frequent (80-99%)HP:0000581

Decreased body height

Very frequent (80-99%)HP:0004322

Decreased projection of lower jaw

Very frequent (80-99%)HP:0000347

Decreased size of cranium

Very frequent (80-99%)HP:0000252

Down-slanting palpebral fissure

Very frequent (80-99%)HP:0000494

Eclabium of lower lip

Very frequent (80-99%)HP:0000232

Flat nasal bridge

Very frequent (80-99%)HP:0005280

Frontal protuberance

Very frequent (80-99%)HP:0002007

High forehead

Very frequent (80-99%)HP:0000348

Increased distance between eyes

Very frequent (80-99%)HP:0000316

Intellectual impairment

Very frequent (80-99%)HP:0100543

Joint ligamentous laxity

Very frequent (80-99%)HP:0001382

Posteriorly angulated ears

Very frequent (80-99%)HP:0000358

Small nose

Very frequent (80-99%)HP:0003196

Aplasia/Hypoplasia affecting the eye

Frequent (30-79%)HP:0008056

Cryptorchidism

Frequent (30-79%)HP:0000028

High arched palate

Frequent (30-79%)HP:0000218

Hooked nose

Frequent (30-79%)HP:0000444

Pectus excavatum

Frequent (30-79%)HP:0000767

Scoliosis

Frequent (30-79%)HP:0002650

Short and broad skull

Frequent (30-79%)HP:0000248

Abnormality of cardiovascular system morphology

Occasional (5-29%)HP:0030680

Abnormality of the urinary system

Occasional (5-29%)HP:0000079

Related Conditions

10q partial trisomy syndrome(parent)

Quick Facts

SNOMED CT: 770666006
UMLS CUI: C4749376
Fully Specified Name: Non-distal trisomy 10q (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 24

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.