Familial amyloid nephropathy with urticaria AND deafness

disorder

SNOMED 15123008CUI C0268390

Overview

Familial amyloid nephropathy with urticaria AND deafness 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.

Chronic extreme exhaustion

Always present (100%)HP:0012432

Clubbing of fingers

Always present (100%)HP:0100759

Conjunctival hyperemia

Always present (100%)HP:0030953

Deafness

Always present (100%)HP:0000365

Deep dermal perivascular inflammatory infiltrate

Always present (100%)HP:0031191

Elevated C-reactive protein level

Always present (100%)HP:0011227

Headache

Always present (100%)HP:0002315

Increased total leukocyte count

Always present (100%)HP:0001974

Intermittent fever

Always present (100%)HP:0001954

Intracranial hypertension

Always present (100%)HP:0002516

Maculopapular exanthema

Always present (100%)HP:0040186

Papillitis

Always present (100%)HP:0001085

Polyarticular arthritis

Always present (100%)HP:0005764

Arthralgias

Very frequent (80-99%)HP:0002829

Arthritis

Very frequent (80-99%)HP:0001369

Broad foot

Very frequent (80-99%)HP:0001769

Cranial nerve paralysis

Very frequent (80-99%)HP:0006824

Enlarged liver

Very frequent (80-99%)HP:0002240

Episcleritis

Very frequent (80-99%)HP:0100534

Large spleen

Very frequent (80-99%)HP:0001744

Pink eye

Very frequent (80-99%)HP:0000509

Progressive sensorineural hearing impairment

Very frequent (80-99%)HP:0000408

Skin rash

Very frequent (80-99%)HP:0000988

Uveitis

Very frequent (80-99%)HP:0000554

Elevated sedimentation rate

Frequent (30-79%)HP:0003565

Hives

Frequent (30-79%)HP:0001025

Kidney disease

Frequent (30-79%)HP:0000112

Laboratory abnormality

Frequent (30-79%)HP:0001939

Nephrosis

Frequent (30-79%)HP:0000100

Renal amyloidosis

Frequent (30-79%)HP:0001917

Related Conditions

Autosomal dominant hereditary disorder(parent)

Amyloid nephropathy(parent)

Familial disease(parent)

Cryopyrin associated periodic syndrome(parent)

Hereditary nephropathy(parent)

Hereditary amyloidosis(parent)

Sensorineural hearing loss(parent)

Hereditary disorder of the integument(parent)

Inflammatory dermatosis(parent)

Toxic nephropathy(parent)

Hereditary disorder of immune system(parent)

Hereditary hearing loss(parent)

Quick Facts

SNOMED CT: 15123008
UMLS CUI: C0268390
Fully Specified Name: Familial amyloid nephropathy with urticaria AND deafness (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.