Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome

disorder

SNOMED 733453005CUI C4518785

Overview

Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa 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.

Blister

Always present (100%)HP:0008066

Dystrophic nails

Always present (100%)HP:0008404

Focal and segmental glomerulosclerosis

Always present (100%)HP:0000097

Laboured breathing

Always present (100%)HP:0002098

Nephrosis

Always present (100%)HP:0000100

Oncholysis

Always present (100%)HP:0001806

Sparse eyebrow

Always present (100%)HP:0045075

Thin eyelashes

Always present (100%)HP:0000653

Thinning scalp hair

Always present (100%)HP:0002209

Interstitial pulmonary disease

Frequent (30-79%)HP:0006530

respiratory infections, recurrent

Frequent (30-79%)HP:0002205

Decreased glomerular filtration rate

HP:0012213

Decreased size of cranium

HP:0000252

Erythema

HP:0010783

Fine hair

HP:0002213

Fragile skin

HP:0001030

Gynaecomastia

HP:0000771

Hyperplasia of nose

HP:0000448

Hypoalbuminaemia

HP:0003073

Increased distance between eyes

HP:0000316

Low chest circumference

HP:0000774

Macrotia

HP:0000400

Narrow mouth

HP:0000160

Peripheral hypotonia

HP:0001252

Proteinuria

HP:0000093

Protruding forehead

HP:0011220

Renal failure in adulthood

HP:0000083

Renal tubular cell atrophy

HP:0000092

Respiratory acidosis

HP:0005972

Respiratory distress, neonatal

HP:0002643

Related Conditions

Recessive hereditary disorder (autosomal)(parent)

Interstitial lung disease(parent)

Congenital connective tissue disorder(parent)

Connective tissue hereditary disorder(parent)

Nephrotic syndrome(parent)

Hereditary nephropathy(parent)

Perinatal respiratory disorders(parent)

Genetic disease of glomerulus(parent)

Quick Facts

SNOMED CT: 733453005
UMLS CUI: C4518785
Fully Specified Name: Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 30

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.