Chromosome 11p13 deletion syndrome

disorder

SNOMED 715215007CUI C0206115

Overview

Chromosome 11p13 deletion 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.

Absent/small iris

Very frequent (80-99%)HP:0008053

Aniridia

Very frequent (80-99%)HP:0000526

Abnormal vagina morphology

Frequent (30-79%)HP:0000142

Cryptorchidism

Frequent (30-79%)HP:0000028

Decreased body height

Frequent (30-79%)HP:0004322

Decreased size of cranium

Frequent (30-79%)HP:0000252

Displacement of the external urethral orifice

Frequent (30-79%)HP:0100627

Eclabium of lower lip

Frequent (30-79%)HP:0000232

Eye drop

Frequent (30-79%)HP:0000508

Hearing abnormality

Frequent (30-79%)HP:0000364

Hypoplastic mandible

Frequent (30-79%)HP:0000347

Hypospadias

Frequent (30-79%)HP:0000047

Involuntary, rapid, rhythmic eye movements

Frequent (30-79%)HP:0000639

Lens opacities

Frequent (30-79%)HP:0000518

Nephroblastoma

Frequent (30-79%)HP:0002667

Poor school performance

Frequent (30-79%)HP:0001249

Poor vision

Frequent (30-79%)HP:0000505

Streak ovary

Frequent (30-79%)HP:0010464

Abnormality of the uterus

Occasional (5-29%)HP:0000130

Ambiguous external genitalia

Occasional (5-29%)HP:0000062

Dysfunction of lateral corticospinal tracts

Occasional (5-29%)HP:0007299

Glaucoma

Occasional (5-29%)HP:0000501

Gonadoblastoma

Occasional (5-29%)HP:0000150

Obesity

Occasional (5-29%)HP:0001513

Renal failure

Occasional (5-29%)HP:0000083

Scoliosis

Occasional (5-29%)HP:0002650

Kidney disease

HP:0000112

Related Conditions

11p partial monosomy syndrome(parent)

Quick Facts

SNOMED CT: 715215007
UMLS CUI: C0206115
Fully Specified Name: Chromosome 11p13 deletion syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 27

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.