HLRCC - hereditary leiomyomatosis and renal cell cancer

disorder

SNOMED 1162799008CUI C1708350

Overview

HLRCC - hereditary leiomyomatosis and renal cell cancer 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.

Cutaneous leiomyoma

Very frequent (80-99%)HP:0007620

Multiple cutaneous leiomyomas

Very frequent (80-99%)HP:0007437

Muscular abnormality

Very frequent (80-99%)HP:0003011

Renal carcinoma

Frequent (30-79%)HP:0005584

Skin itching

Frequent (30-79%)HP:0000989

Barrett esophagus

Occasional (5-29%)HP:0100580

Cataract

Occasional (5-29%)HP:0000518

Cutaneous leiomyosarcoma

Occasional (5-29%)HP:0006755

Esophageal tumor

Occasional (5-29%)HP:0100751

Papillary renal cell carcinoma type 2

Occasional (5-29%)HP:0006732

Uterine fibroid

Occasional (5-29%)HP:0000131

Uterine leiomyosarcoma

Occasional (5-29%)HP:0002891

Vaginal tumor

Occasional (5-29%)HP:0100650

Decreased fumarate hydratase activity

HP:0003536

Related Conditions

Autosomal dominant hereditary disorder(parent)

Hereditary disorder of the integument(parent)

Hereditary neoplastic syndrome(parent)

Cutaneous leiomyoma(parent)

Quick Facts

SNOMED CT: 1162799008
UMLS CUI: C1708350
Fully Specified Name: Hereditary leiomyomatosis and renal cell carcinoma (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 14

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.