Hypotrichosis, lymphedema, telangiectasia, renal defect syndrome

disorder

SNOMED 723363009CUI C4317151

Overview

Hypotrichosis, lymphedema, telangiectasia, renal defect 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.

Lymphatic obstruction

Always present (100%)HP:0001004

Agenesis of eyebrows

Very frequent (80-99%)HP:0002223

Failure of development of eyelashes

Very frequent (80-99%)HP:0000561

Hair loss

Very frequent (80-99%)HP:0001596

Lymphatic disease

Very frequent (80-99%)HP:0100763

Predominantly lower limb lymphedema

Very frequent (80-99%)HP:0003550

Sparse body hair

Very frequent (80-99%)HP:0002231

Telangiectases of palms and soles

Very frequent (80-99%)HP:0100869

Teleangiectases of soles

Very frequent (80-99%)HP:0100870

Thinning scalp hair

Very frequent (80-99%)HP:0002209

Cutis marmorata

Frequent (30-79%)HP:0000965

Dermal translucency

Frequent (30-79%)HP:0010648

Hydrocele testis

Frequent (30-79%)HP:0000034

Ascites

Occasional (5-29%)HP:0001541

Fluid around lungs

Occasional (5-29%)HP:0002202

Hydrops fetalis

Occasional (5-29%)HP:0001789

Nonimmune hydrops fetalis

Occasional (5-29%)HP:0001790

Psychomotor development deficiency

Occasional (5-29%)HP:0001263

Skin degeneration

Occasional (5-29%)HP:0004334

Abnormal renal glomerulus morphology

HP:0000095

Broad flat nasal bridge

HP:0000431

Butterfly facial telangiectasia

HP:0005598

Epidermal hyperkeratosis

HP:0000962

Freckling

HP:0001480

Increased nasal height

HP:0003189

Mandibular hyperplasia

HP:0000303

MPGN

HP:0000793

Oval facies

HP:0000300

Palpebronasal fold

HP:0000286

Progressive renal failure

HP:0012622

Related Conditions

Autosomal hereditary disorder(parent)

Hypotrichosis(parent)

Hereditary lymphedema(parent)

Cardiovascular system hereditary disorder(parent)

Hereditary disorder of the integument(parent)

Hereditary nephropathy(parent)

Telangiectasia of skin(parent)

Genetic disease of glomerulus(parent)

Quick Facts

SNOMED CT: 723363009
UMLS CUI: C4317151
Fully Specified Name: Hypotrichosis, lymphedema, telangiectasia, renal defect 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.