N syndrome

disorder

SNOMED 723410002CUI C2936859

Overview

N 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 eye morphology

Very frequent (80-99%)HP:0012372

Abnormality of the eyelids

Very frequent (80-99%)HP:0000492

Bilateral nerve deafness

Very frequent (80-99%)HP:0008619

Cognitive delay

Very frequent (80-99%)HP:0001263

Cryptorchidism

Very frequent (80-99%)HP:0000028

Hypospadias

Very frequent (80-99%)HP:0000047

Increased corneal diameter

Very frequent (80-99%)HP:0000485

Involuntary muscle stiffness, contraction, or spasm

Very frequent (80-99%)HP:0001257

Mental-retardation

Very frequent (80-99%)HP:0001249

Poor vision

Very frequent (80-99%)HP:0000505

T-cell lymphoma/leukemia

Very frequent (80-99%)HP:0005517

Abnormality of chromosome stability

HP:0003220

Blood cancer

HP:0001909

Cancer

HP:0002664

Hearing impairment

HP:0000365

Related Conditions

Hereditary neoplastic syndrome(parent)

X-linked recessive hereditary disease(parent)

Developmental hereditary disorder(parent)

Multiple malformation syndrome with facial defects as major feature(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 723410002
UMLS CUI: C2936859
Fully Specified Name: N syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 15

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.