PIEZO1-related generalised lymphatic dysplasia with non-immune hydrops fetalis

disorder

SNOMED 1222667006CUI C4225184

Overview

PIEZO1-related generalised lymphatic dysplasia with non-immune hydrops fetalis 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.

Bacterial infection of skin

Frequent (30-79%)HP:0100658

Large spleen

Frequent (30-79%)HP:0001744

Palpebronasal fold

Frequent (30-79%)HP:0000286

Atria septal defect

Occasional (5-29%)HP:0001631

Chylothorax

Occasional (5-29%)HP:0010310

Decreased body height

Occasional (5-29%)HP:0004322

Deep venous thrombosis

Occasional (5-29%)HP:0002625

Fluid around lungs

Occasional (5-29%)HP:0002202

Hypoplastic mandible

Occasional (5-29%)HP:0000347

Intestinal lymphangiectasia

Occasional (5-29%)HP:0002593

Prune belly

Occasional (5-29%)HP:0004392

Capuchin ears

HP:0000378

Dysplastic ears

HP:0000377

Facial swelling

HP:0000282

Gastroesophageal reflux disease

HP:0002020

Generalised oedema

HP:0007430

Genital oedema

HP:0031188

Hearing impairment

HP:0000365

Hydrocele testis

HP:0000034

Hypothyroidism

HP:0000821

Increased amniotic fluid index

HP:0001561

Lymphatic obstruction

HP:0001004

Mental and motor retardation

HP:0001263

Nonimmune hydrops fetalis

HP:0001790

Pectus excavatum

HP:0000767

Periorbital edema

HP:0100539

Peritoneal effusion

HP:0001541

Pterygium colli

HP:0000465

Scoliosis

HP:0002650

Varicose veins

HP:0002619

Related Conditions

Primary lymphedema(parent)

Genetic disease(parent)

Quick Facts

SNOMED CT: 1222667006
UMLS CUI: C4225184
Fully Specified Name: Piezo type mechanosensitive ion channel component 1-related generalized lymphatic dysplasia with non-immune hydrops fetalis (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.