Histiocytosis-lymphadenopathy plus syndrome

disorder

SNOMED 711159002CUI C1864445

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Contractures of the toes

Always present (100%)HP:0005830

Elevated sedimentation rate

Always present (100%)HP:0003565

Flexion deformity of finger

Always present (100%)HP:0012785

Hypertrichotic hyperpigmented patch

Always present (100%)HP:0033190

Joint contracture of the 5th finger

Always present (100%)HP:0009183

Proximal interphalangeal finger joint contractures

Always present (100%)HP:0100490

Decreased testicular size

Very frequent (80-99%)HP:0008734

Delayed puberty

Very frequent (80-99%)HP:0000823

Histiocytosis

Very frequent (80-99%)HP:0100727

Indurated skin

Very frequent (80-99%)HP:0030053

Melanoderma

Very frequent (80-99%)HP:0000953

Pseudoscleroderma

Very frequent (80-99%)HP:0100324

Swollen lymph nodes in the neck

Very frequent (80-99%)HP:0025289

Baldness

Frequent (30-79%)HP:0002293

Camptodactyly

Frequent (30-79%)HP:0012385

Curvature of digit

Frequent (30-79%)HP:0030084

Decreased body height

Frequent (30-79%)HP:0004322

Down-slanting palpebral fissure

Frequent (30-79%)HP:0000494

Enlarged liver

Frequent (30-79%)HP:0002240

Episcleritis

Frequent (30-79%)HP:0100534

Hearing impairment

Frequent (30-79%)HP:0000365

Hepatosplenomegaly

Frequent (30-79%)HP:0001433

Hypertrichosis

Frequent (30-79%)HP:0000998

Large spleen

Frequent (30-79%)HP:0001744

Lymph node hyperplasia

Frequent (30-79%)HP:0002716

Nostrils anteverted

Frequent (30-79%)HP:0000463

Pyrexia

Frequent (30-79%)HP:0001945

Retrognathia

Frequent (30-79%)HP:0000278

Sensorineural deafness

Frequent (30-79%)HP:0000407

Tibial torsion

Frequent (30-79%)HP:0100694

Related Conditions

Histiocytic syndrome(parent)

Recessive hereditary disorder (autosomal)(parent)

Hereditary disorder of the integument(parent)

Dermatosis(parent)

Quick Facts

SNOMED CT: 711159002
UMLS CUI: C1864445
Fully Specified Name: Histiocytosis-lymphadenopathy plus 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.