Neurofibromatosis Noonan syndrome

disorder

SNOMED 715344006CUI C2931482

Overview

Neurofibromatosis Noonan 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.

Low-set ears

Always present (100%)HP:0000369

Anomaly of the face

Very frequent (80-99%)HP:0000271

Cardiomyopathy, hypertrophic

Very frequent (80-99%)HP:0001639

Decreased body height

Very frequent (80-99%)HP:0004322

Down-slanting palpebral fissure

Very frequent (80-99%)HP:0000494

Eye drop

Very frequent (80-99%)HP:0000508

Helix abnormal

Very frequent (80-99%)HP:0011039

Increased distance between eyes

Very frequent (80-99%)HP:0000316

Lax abdominal musculature

Very frequent (80-99%)HP:0009023

Multiple cafe-au-lait spots

Very frequent (80-99%)HP:0007565

Posteriorly angulated ears

Very frequent (80-99%)HP:0000358

Pterygium colli

Very frequent (80-99%)HP:0000465

Pulmonary stenosis

Very frequent (80-99%)HP:0001642

Specific learning disability

Very frequent (80-99%)HP:0001328

Abnormality of the chest

Frequent (30-79%)HP:0000765

Abnormality of the lymphatic system

Frequent (30-79%)HP:0100763

Axillary freckling

Frequent (30-79%)HP:0000997

Big calvaria

Frequent (30-79%)HP:0000256

Cobb angle greater than ten degrees

Frequent (30-79%)HP:0002650

Cryptorchidism

Frequent (30-79%)HP:0000028

Deglutition disorder

Frequent (30-79%)HP:0002015

Increased bleeding time

Frequent (30-79%)HP:0003010

Iris hamartomas

Frequent (30-79%)HP:0009737

Low posterior hair line

Frequent (30-79%)HP:0002162

Neurofibroma

Frequent (30-79%)HP:0001067

Outward turned elbows

Frequent (30-79%)HP:0002967

Palpebronasal fold

Frequent (30-79%)HP:0000286

Pectus excavatum

Frequent (30-79%)HP:0000767

Prominent lips

Frequent (30-79%)HP:0012471

Hypotrophic malar bone

Occasional (5-29%)HP:0000272

Related Conditions

Neurofibromatosis type 1(parent)

Quick Facts

SNOMED CT: 715344006
UMLS CUI: C2931482
Fully Specified Name: Neurofibromatosis Noonan syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 30

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.