46,XX ovarian dysgenesis, short stature syndrome

disorder

SNOMED 1237345002CUI C4015409

Overview

46,XX ovarian dysgenesis, short stature 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.

Decreased body height

Always present (100%)HP:0004322

Decreased body weight

Always present (100%)HP:0004325

Decreased serum estradiol

Always present (100%)HP:0008214

Delayed skeletal development

Always present (100%)HP:0002750

Elevated circulating follicle stimulating hormone level

Always present (100%)HP:0008232

Primary amenorrhea

Always present (100%)HP:0000786

Related Conditions

Ovarian dysgenesis(parent)

Small stature(parent)

Developmental hereditary disorder(parent)

Hereditary disorder of endocrine system(parent)

Reproductive system hereditary disorder(parent)

Recessive hereditary disorder (autosomal)(parent)

46,XX disorder of sex development(parent)

Quick Facts

SNOMED CT: 1237345002
UMLS CUI: C4015409
Fully Specified Name: 46,XX ovarian dysgenesis, short stature syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 6

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.