Cholestasis with pigmentary retinopathy and cleft palate syndrome

disorder

SNOMED 720636001CUI C0795969

Overview

Cholestasis with pigmentary retinopathy and cleft palate 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.

Dilatation of intrahepatic biliary ducts

Always present (100%)HP:0033149

Hepatopathy

Always present (100%)HP:0001410

Repeated bladder infections

Always present (100%)HP:0000010

Yellowing of the skin

Always present (100%)HP:0000952

Cleft lip, cleft palate

Very frequent (80-99%)HP:0000202

Preauricular earpits

Very frequent (80-99%)HP:0004467

Skin tag on the posterior cheek

Very frequent (80-99%)HP:0000384

Abnormal gallbladder morphology

Frequent (30-79%)HP:0012437

Abnormality of the biliary system

Frequent (30-79%)HP:0004297

Aortic coarctation

Frequent (30-79%)HP:0001680

Bilateral cleft lip

Frequent (30-79%)HP:0100336

Choledochal cyst

Frequent (30-79%)HP:0100890

Decreased body height

Frequent (30-79%)HP:0004322

Disease of the heart muscle

Frequent (30-79%)HP:0001638

Dysplastic ears

Frequent (30-79%)HP:0000377

Intestinal malrotation

Frequent (30-79%)HP:0002566

Mild hearing impairment

Frequent (30-79%)HP:0012712

Poor weight gain

Frequent (30-79%)HP:0001508

Prolonged neonatal jaundice

Frequent (30-79%)HP:0006579

Retinal pigmentary degeneration

Frequent (30-79%)HP:0000580

Right and left cleft palate

Frequent (30-79%)HP:0100337

Skin itching

Frequent (30-79%)HP:0000989

Slowed or blocked flow of bile from liver

Frequent (30-79%)HP:0001396

Upset stomach

Frequent (30-79%)HP:0002027

Abnormally closed or absent vagina

Occasional (5-29%)HP:0000148

Absent anus

Occasional (5-29%)HP:0002023

Aortic aneurysm

Occasional (5-29%)HP:0004942

Atria septal defect

Occasional (5-29%)HP:0001631

Bladder exstrophy

Occasional (5-29%)HP:0002836

Cholangitis

Occasional (5-29%)HP:0030151

Related Conditions

Cleft palate with cleft lip(parent)

Multiple system malformation syndrome(parent)

Congenital anomaly of liver(parent)

Retinal pigment deposits(parent)

Congenital malformation of the urinary system(parent)

Congenital anomaly of retina(parent)

Quick Facts

SNOMED CT: 720636001
UMLS CUI: C0795969
Fully Specified Name: Cholestasis with pigmentary retinopathy and cleft palate 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.