Multifocal lymphangioendotheliomatosis, thrombocytopenia syndrome

disorder

SNOMED 1208725005CUI C5575322

Overview

Multifocal lymphangioendotheliomatosis, thrombocytopenia 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.

Abnormal gastrointestinal tract morphology

Very frequent (80-99%)HP:0012718

Abnormal vascular morphology

Very frequent (80-99%)HP:0025015

Abnormality of skin morphology

Very frequent (80-99%)HP:0011121

Gastrointestinal haemorrhage

Very frequent (80-99%)HP:0002239

Low platelet count

Very frequent (80-99%)HP:0001873

Generalized abnormality of skin

Frequent (30-79%)HP:0011354

Intracranial haemorrhage

Frequent (30-79%)HP:0002170

Lung disease

Frequent (30-79%)HP:0002088

Red-blue papule

Frequent (30-79%)HP:0030350

Violaceous plaque

Frequent (30-79%)HP:0025474

Abnormality of renal cortex morphology

Occasional (5-29%)HP:0011035

Black faeces

Occasional (5-29%)HP:0002249

Breakdown of bone

Occasional (5-29%)HP:0002797

Cardiac anomaly

Occasional (5-29%)HP:0001627

Central nervous system disease

Occasional (5-29%)HP:0002011

Cerebral hemorrhage

Occasional (5-29%)HP:0001342

Coughing

Occasional (5-29%)HP:0012735

Coughing up blood or blood-stained mucus

Occasional (5-29%)HP:0002105

Epilepsy

Occasional (5-29%)HP:0001250

Eye disease

Occasional (5-29%)HP:0000478

Hematemesis

Occasional (5-29%)HP:0002248

Hematochezia

Occasional (5-29%)HP:0002573

High blood bilirubin levels

Occasional (5-29%)HP:0002904

Intestinal perforation

Occasional (5-29%)HP:0031368

Liver disease

Occasional (5-29%)HP:0001392

Neurodevelopmental delay

Occasional (5-29%)HP:0012758

Osteolysis involving bones of the lower limbs

Occasional (5-29%)HP:0009139

Osteolysis involving bones of the upper limbs

Occasional (5-29%)HP:0045039

Peripheral nervous system disease

Occasional (5-29%)HP:0000759

Renal anomalies

Occasional (5-29%)HP:0000077

Related Conditions

Lymphatic malformation(parent)

Congenital thrombocytopenia(parent)

Quick Facts

SNOMED CT: 1208725005
UMLS CUI: C5575322
Fully Specified Name: Multifocal lymphangioendotheliomatosis, thrombocytopenia 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.