Pierson syndrome

disorder

SNOMED 723449004CUI C1836876

Overview

Pierson 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.

Echogenic kidneys

Always present (100%)HP:0004719

End-stage renal disease

Always present (100%)HP:0003774

Proteinuria

Always present (100%)HP:0000093

Congenital nephrosis

Very frequent (80-99%)HP:0008677

Diffuse mesangial sclerosis glomerulopathy

Very frequent (80-99%)HP:0001967

Decreased amniotic fluid index

Frequent (30-79%)HP:0001562

Decreased size of cranium

Frequent (30-79%)HP:0000252

Feeding difficulties

Frequent (30-79%)HP:0011968

Feeding difficulties in infancy

Frequent (30-79%)HP:0008872

Involuntary, rapid, rhythmic eye movements

Frequent (30-79%)HP:0000639

Lens opacities

Frequent (30-79%)HP:0000518

Macular hypoplasia

Frequent (30-79%)HP:0001104

Mental and motor retardation

Frequent (30-79%)HP:0001263

Microcephaly, progressive

Frequent (30-79%)HP:0000253

Microcoria

Frequent (30-79%)HP:0025492

No development of motor milestones

Frequent (30-79%)HP:0001270

Peripheral hypotonia

Frequent (30-79%)HP:0001252

Renal insufficiency

Frequent (30-79%)HP:0000083

Absent deep tendon reflexes

Occasional (5-29%)HP:0001284

Head lag

Occasional (5-29%)HP:0032988

High blood pressure

Occasional (5-29%)HP:0000822

Hypopigmentation of the fundus

Occasional (5-29%)HP:0007894

Hyporeflexia

Occasional (5-29%)HP:0001265

Impaired vision

Occasional (5-29%)HP:0000505

Iris hypoplasia

Occasional (5-29%)HP:0007676

Legal blindness

Occasional (5-29%)HP:0000618

Muscle wasting

Occasional (5-29%)HP:0003202

Nanophthalmos

Occasional (5-29%)HP:0000568

Persistent hyperplasia of primary vitreous

Occasional (5-29%)HP:0007968

Retinal bleeding

Occasional (5-29%)HP:0000573

Related Conditions

Congenital anomaly of eye(parent)

Recessive hereditary disorder (autosomal)(parent)

Steroid-unresponsive nephrotic syndrome(parent)

Hereditary disorder of the visual system(parent)

Hereditary nephropathy(parent)

Developmental hereditary disorder(parent)

Genetic disease of glomerulus(parent)

Quick Facts

SNOMED CT: 723449004
UMLS CUI: C1836876
Fully Specified Name: Pierson 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.