SOPH (short stature, optic nerve atrophy, Pelger-Huët anomaly) syndrome

disorder

SNOMED 1237618009CUI C5768133

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Related Conditions

Hereditary degenerative disease of central nervous system(parent)

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

Small stature(parent)

Inherited optic neuropathy(parent)

Developmental hereditary disorder(parent)

Disorder of immune structure(parent)

Hereditary white blood cell disorder(parent)

Congenital atrophy of optic nerve(parent)

Pelger-Huët anomaly(parent)

Recessive hereditary disorder (autosomal)(parent)

Quick Facts

SNOMED CT: 1237618009
UMLS CUI: C5768133
Fully Specified Name: Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0

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.