Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome

disorder

SNOMED 716192009CUI C4274785

Overview

Short stature and deafness with neutrophil dysfunction and facial dysmorphism 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.

Abnormality of immune system physiology

Frequent (30-79%)HP:0010978

Craniosyostosis

Frequent (30-79%)HP:0001363

Decreased body height

Frequent (30-79%)HP:0004322

Ectopic anus

Frequent (30-79%)HP:0004397

Glaucoma

Frequent (30-79%)HP:0000501

Mutism

Frequent (30-79%)HP:0002300

Sensorineural deafness

Frequent (30-79%)HP:0000407

Abnormal tissue mass

Occasional (5-29%)HP:0002664

Related Conditions

Sensorineural hearing loss(parent)

Multiple malformation syndrome, moderate short stature, facial(parent)

Heritable disorder of neutrophil function(parent)

Developmental hereditary disorder(parent)

Hereditary hearing loss(parent)

Quick Facts

SNOMED CT: 716192009
UMLS CUI: C4274785
Fully Specified Name: Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 8

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.