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Autosomal recessive pseudoxanthoma elasticum
disorderSNOMED 403812000CUI C0376359
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Retinal peau d'orange
Always present (100%)HP:0033027
Knapp streaks
Very frequent (80-99%)HP:0001102
Choroidal neovascular membrane
Frequent (30-79%)HP:0011506
Decreased DLCO
Frequent (30-79%)HP:0045051
Gastrointestinal haemorrhage
Frequent (30-79%)HP:0002239
Loose skin
Frequent (30-79%)HP:0000973
Poor vision
Frequent (30-79%)HP:0000505
Yellow-orange papule
Frequent (30-79%)HP:0025507
Cerebral vascular events
Occasional (5-29%)HP:0001297
Decreased visual acuity
Occasional (5-29%)HP:0007663
High blood pressure
Occasional (5-29%)HP:0000822
Intermittent claudication
Occasional (5-29%)HP:0004417
Pigmented macular degeneration
Occasional (5-29%)HP:0000608
Renovascular hypertension
Occasional (5-29%)HP:0100817
Weak pulse
Occasional (5-29%)HP:0032553
Colloid bodies of Civatte
Very rare (1-4%)HP:0025115
Coronary disease
Very rare (1-4%)HP:0001677
Heart failure
Very rare (1-4%)HP:0001635
Mitral valve prolapse
Very rare (1-4%)HP:0001634
Mitral valve stenosis
Very rare (1-4%)HP:0001718
Restrictive cardiomyopathy
Very rare (1-4%)HP:0001723
Accelerated plaque build-up in arteries
HP:0004943
Angina pectoris
HP:0001681
Optic nerve head drusen
HP:0012426
Retinal bleeding
HP:0000573
White oral mucosal macule
HP:0033026
Quick Facts
- SNOMED CT
- 403812000
- UMLS CUI
- C0376359
- Fully Specified Name
- Autosomal recessive pseudoxanthoma elasticum (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 26
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.