Nephrotic syndrome with pseudohermaphroditism

disorder

SNOMED 236385009CUI C0950121

Overview

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

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Didelphic uterus

Always present (100%)HP:0003762

Enlarged kidney

Always present (100%)HP:0000105

Focal and segmental glomerulosclerosis

Always present (100%)HP:0000097

Palpebronasal fold

Always present (100%)HP:0000286

Posterolateral diaphragmatic hernia

Always present (100%)HP:0025193

Respiratory distress, neonatal

Always present (100%)HP:0002643

Septate vagina

Always present (100%)HP:0001153

Wider-than-typical soft spot of skull

Always present (100%)HP:0000260

Kidney damage

Very frequent (80-99%)HP:0000112

Male pseudohermaphroditism

Very frequent (80-99%)HP:0000037

Nephroblastoma

Very frequent (80-99%)HP:0002667

Nephrosis

Very frequent (80-99%)HP:0000100

Proteinuria

Very frequent (80-99%)HP:0000093

High blood pressure

Frequent (30-79%)HP:0000822

Mixed gonadal dysgenesis

Occasional (5-29%)HP:0000133

Ambiguous genitalia in males

HP:0000033

Ambiguous genitalia, female

HP:0000061

Diaphragmatic hernia

HP:0000776

Diffuse mesangial sclerosis glomerulopathy

HP:0001967

End-stage renal disease

HP:0003774

Gonadal tissue inappropriate for external genitalia or chromosomal sex

HP:0003248

Ovarian gonadoblastoma

HP:0000149

True hermaphroditism

HP:0010459

Related Conditions

Hereditary neoplastic syndrome(parent)

Autosomal dominant hereditary disorder(parent)

Nephrotic syndrome(parent)

Hereditary nephropathy(parent)

Congenital anomaly of the kidney(parent)

Developmental hereditary disorder(parent)

Genetic disease of glomerulus(parent)

Abnormal renal corpuscle morphology(parent)

Quick Facts

SNOMED CT: 236385009
UMLS CUI: C0950121
Fully Specified Name: Drash syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 23

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.