Hepatic fibrosis, renal cyst, intellectual disability syndrome

disorder

SNOMED 771149000CUI C2931226

Overview

Hepatic fibrosis, renal cyst, intellectual disability 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.

Congenital hepatic fibrosis

Very frequent (80-99%)HP:0002612

Eyelid ptosis

Very frequent (80-99%)HP:0000508

Poor school performance

Very frequent (80-99%)HP:0001249

Abnormal dermatoglyphics

Frequent (30-79%)HP:0007477

Abnormal eye

Frequent (30-79%)HP:0000478

Abnormality of movement

Frequent (30-79%)HP:0100022

Abnormality of vision

Frequent (30-79%)HP:0000504

Biparietal narrowing

Frequent (30-79%)HP:0004422

Blepharophimosis

Frequent (30-79%)HP:0000581

Coloboma of choroid

Frequent (30-79%)HP:0000567

Decreased body height

Frequent (30-79%)HP:0004322

Dilated cerebral ventricle

Frequent (30-79%)HP:0002119

Epilepsy

Frequent (30-79%)HP:0001250

Hearing abnormality

Frequent (30-79%)HP:0000364

Hypertonia

Frequent (30-79%)HP:0001276

Impaired vision

Frequent (30-79%)HP:0000505

Involuntary, rapid, rhythmic eye movements

Frequent (30-79%)HP:0000639

Meningocele

Frequent (30-79%)HP:0002435

Multicystic kidney dysplasia

Frequent (30-79%)HP:0000003

Nostrils anteverted

Frequent (30-79%)HP:0000463

Permanent curving of the pinkie finger

Frequent (30-79%)HP:0004209

Posteriorly angulated ears

Frequent (30-79%)HP:0000358

Prominent ear

Frequent (30-79%)HP:0000411

Renal cyst

Frequent (30-79%)HP:0000107

Respiratory function loss

Frequent (30-79%)HP:0002093

Retraction of the tongue

Frequent (30-79%)HP:0000162

Small nasal alae

Frequent (30-79%)HP:0000430

Small nose

Frequent (30-79%)HP:0003196

Squint

Frequent (30-79%)HP:0000486

Related Conditions

Multiple malformation syndrome with facial defects as major feature(parent)

Congenital hepatic fibrosis(parent)

Congenital anomaly of the kidney(parent)

Congenital cystic kidney disease(parent)

Genetic intellectual disability(parent)

Developmental hereditary disorder(parent)

Digestive system hereditary disorder(parent)

Hereditary nephropathy(parent)

Recessive hereditary disorder (autosomal)(parent)

Quick Facts

SNOMED CT: 771149000
UMLS CUI: C2931226
Fully Specified Name: Hepatic fibrosis, renal cyst, intellectual disability syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 29

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.