Crigler-Najjar syndrome, type I

disorder

SNOMED 8933000CUI C0010324

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.

Biliary tract abnormality

Very frequent (80-99%)HP:0001080

Hyperbilirubinemia, neonatal

Very frequent (80-99%)HP:0003265

Hypotonia, early

Very frequent (80-99%)HP:0008947

Kernicterus

Very frequent (80-99%)HP:0001343

Liver disease

Very frequent (80-99%)HP:0001392

Prolonged neonatal jaundice

Very frequent (80-99%)HP:0006579

Unconjugated hyperbilirubinemia

Very frequent (80-99%)HP:0008282

Yellowing of the skin

Very frequent (80-99%)HP:0000952

Muscular hypotonia

Frequent (30-79%)HP:0001252

Poor sucking

Frequent (30-79%)HP:0002033

Abnormal auditory evoked potentials

Occasional (5-29%)HP:0006958

Arc de cercle

Occasional (5-29%)HP:0002179

Brain inflammation

Occasional (5-29%)HP:0002383

Cognitive deficits

Occasional (5-29%)HP:0100543

Dizziness

Occasional (5-29%)HP:0002321

Dullness

Occasional (5-29%)HP:0001254

Dysplasia of tooth enamel

Occasional (5-29%)HP:0006297

Extraocular muscle palsy

Occasional (5-29%)HP:0000597

Hepatosplenomegaly

Occasional (5-29%)HP:0001433

High-pitched cry

Occasional (5-29%)HP:0025430

Hypoacusis

Occasional (5-29%)HP:0000365

Memory impairment

Occasional (5-29%)HP:0002354

Oculomotor neuropathy

Occasional (5-29%)HP:0012246

Poor school performance

Occasional (5-29%)HP:0001249

Seizures

Occasional (5-29%)HP:0001250

Skin itching

Occasional (5-29%)HP:0000989

Sleepy

Occasional (5-29%)HP:0002329

Speech delay

Occasional (5-29%)HP:0000750

Trance

Occasional (5-29%)HP:0001259

Tremor

Occasional (5-29%)HP:0001337

Related Conditions

Crigler-Najjar syndrome(parent)

Recessive hereditary disorder (autosomal)(parent)

Digestive system hereditary disorder(parent)

Hepatopathy(parent)

Disorder of digestive system specific to fetus OR newborn(parent)

Quick Facts

SNOMED CT: 8933000
UMLS CUI: C0010324
Fully Specified Name: Crigler-Najjar syndrome, type I (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.