Café-au-lait macules with pulmonary stenosis

disorder

SNOMED 403820003CUI C0553586

Overview

Café-au-lait macules with pulmonary stenosis 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

Multiple birthmarks

Always present (100%)HP:0007565

Posteriorly angulated ears

Always present (100%)HP:0000358

Axillary freckling

Frequent (30-79%)HP:0000997

Increased distance between eyes

Frequent (30-79%)HP:0000316

Inguinal freckling

Frequent (30-79%)HP:0030052

Palpebronasal fold

Frequent (30-79%)HP:0000286

Pectus carinatum

Frequent (30-79%)HP:0000768

Psychomotor retardation, moderate

Frequent (30-79%)HP:0011343

Pulmonary stenosis

Frequent (30-79%)HP:0001642

Decreased body height

HP:0004322

Iris hamartomas

Excluded (<1%)HP:0009737

Neurofibroma

HP:0001067

Relatively large head

HP:0004482

Related Conditions

Neurofibromatosis syndrome(parent)

Quick Facts

SNOMED CT: 403820003
UMLS CUI: C0553586
Fully Specified Name: Café-au-lait macules with pulmonary stenosis (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 14

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.