Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome

disorder

SNOMED 724278007CUI C1843355

Overview

Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis 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.

Fibrous cholangitis

Always present (100%)HP:0030991

Hair loss

Always present (100%)HP:0001596

Liver fibrosis

Always present (100%)HP:0001395

Skin itching

Always present (100%)HP:0000989

Enlarged liver

Very frequent (80-99%)HP:0002240

Hair loss on scalp from scarring condition

Very frequent (80-99%)HP:0004552

Ichthyosiform abnormality of the skin

Very frequent (80-99%)HP:0008064

Large spleen

Very frequent (80-99%)HP:0001744

Slowed or blocked flow of bile from liver

Very frequent (80-99%)HP:0001396

Sparse body hair

Very frequent (80-99%)HP:0002231

Sparse eyebrow

Very frequent (80-99%)HP:0045075

Thin eyelashes

Very frequent (80-99%)HP:0000653

Thinning scalp hair

Very frequent (80-99%)HP:0002209

Yellowing of the skin

Very frequent (80-99%)HP:0000952

Dysplasia of tooth enamel

Frequent (30-79%)HP:0006297

Intrahepatic atresia of biliary duct

Frequent (30-79%)HP:0005248

Mental-retardation

Frequent (30-79%)HP:0001249

Proliferation of bile canaliculi

Frequent (30-79%)HP:0001408

Abnormal tooth enamel

Occasional (5-29%)HP:0000682

Acanthosis nigricans

Occasional (5-29%)HP:0000956

Hepatic failure

Occasional (5-29%)HP:0001399

Missing between one and six teeth

Occasional (5-29%)HP:0000668

Partial anodontia

Occasional (5-29%)HP:0000677

Portal hypertension

Occasional (5-29%)HP:0001409

Decreased hair growth

HP:0008070

Dry skin

HP:0000958

Orthokeratosis

HP:0040162

Parakeratosis

HP:0001036

Thick hair

HP:0100874

Thickening of upper layer of skin

HP:0025092

Related Conditions

Congenital hypotrichia(parent)

Sclerosing cholangitis(parent)

Digestive system hereditary disorder(parent)

Autosomal recessive ichthyosis(parent)

Congenital anomaly of biliary tract(parent)

Quick Facts

SNOMED CT: 724278007
UMLS CUI: C1843355
Fully Specified Name: Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis 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.