Lipid proteinosis

disorder

SNOMED 38692000CUI C0023795

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.

Moniliform blepharosis

Always present (100%)HP:6000842

Abnormal oral mucosa morphology

Very frequent (80-99%)HP:0011830

Abnormality of the gingiva

Very frequent (80-99%)HP:0000168

Acne

Very frequent (80-99%)HP:0001061

Blister

Very frequent (80-99%)HP:0008066

Diffusely thickened skin

Very frequent (80-99%)HP:0001072

Full lower lip

Very frequent (80-99%)HP:0000179

Husky voice

Very frequent (80-99%)HP:0001609

Lingual nodules

Very frequent (80-99%)HP:0000199

Papules

Very frequent (80-99%)HP:0200034

Pustules

Very frequent (80-99%)HP:0200039

Scarring

Very frequent (80-99%)HP:0100699

Subcutaneous nodule

Very frequent (80-99%)HP:0001482

Absence of scalp hair

Frequent (30-79%)HP:0002293

Decreased size of tongue

Frequent (30-79%)HP:0000171

Deglutition disorder

Frequent (30-79%)HP:0002015

Dystonic disease

Frequent (30-79%)HP:0001332

Epidermal hyperkeratosis

Frequent (30-79%)HP:0000962

High arched palate

Frequent (30-79%)HP:0000218

respiratory infections, recurrent

Frequent (30-79%)HP:0002205

Temporal lobe calcification

Frequent (30-79%)HP:0034293

Warts

Frequent (30-79%)HP:0200043

Abnormal deposits of calcium in the brain

Occasional (5-29%)HP:0002514

Generalized non-motor (absence) seizure

Occasional (5-29%)HP:0002121

Nasal polyps

Occasional (5-29%)HP:0100582

Seizures

Occasional (5-29%)HP:0001250

Skin erosion

Occasional (5-29%)HP:0200041

Skin plaque

Occasional (5-29%)HP:0200035

Alopecia areata

HP:0002232

Bilateral intracranial calcifications

HP:0005671

Related Conditions

Disease of mucosa(parent)

Hereditary disorder of the integument(parent)

Metabolic and nutritional disorders affecting skin(parent)

Proteinosis(parent)

Recessive hereditary disorder (autosomal)(parent)

Skin deposits(parent)

Quick Facts

SNOMED CT: 38692000
UMLS CUI: C0023795
Fully Specified Name: Lipid proteinosis (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.