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Crigler-Najjar syndrome

disorder
SNOMED 28259009CUI C5551003

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.

Hyperbilirubinemia, neonatal
Very frequent (80-99%)HP:0003265
Unconjugated hyperbilirubinemia
Very frequent (80-99%)HP:0008282
Yellowing of the skin
Very frequent (80-99%)HP:0000952
Central 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
Defective enamel matrix
Occasional (5-29%)HP:0006297
Dizziness
Occasional (5-29%)HP:0002321
Epilepsy
Occasional (5-29%)HP:0001250
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
Kernicterus
Occasional (5-29%)HP:0001343
Languor
Occasional (5-29%)HP:0001254
Memory impairment
Occasional (5-29%)HP:0002354
Skin itching
Occasional (5-29%)HP:0000989
Sleepy
Occasional (5-29%)HP:0002329
Unconsciousness
Occasional (5-29%)HP:0001259
Elevated serum transaminases
Excluded (<1%)HP:0002910
Encephalopathy
HP:0001298

Quick Facts

SNOMED CT
28259009
UMLS CUI
C5551003
Fully Specified Name
Crigler-Najjar syndrome (disorder)
Specialists
0
Diagnostic Biomarkers
0
HPO Phenotypes
24
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.