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Fibrosis, neurodegeneration, cerebral angiomatosis syndrome

disorder
SNOMED 1348304006CUI C4748939

Overview

Fibrosis, neurodegeneration, cerebral angiomatosis 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.

Brain degeneration
Always present (100%)HP:0012444
Chronic hemolytic anaemia
Always present (100%)HP:0004870
Cognitive delay
Always present (100%)HP:0001263
Decreased serum IgG
Always present (100%)HP:0004315
Delayed motor milestones
Always present (100%)HP:0001270
Diarrhea
Always present (100%)HP:0002014
Dilated cerebral ventricle
Always present (100%)HP:0002119
Dystonic disease
Always present (100%)HP:0001332
Enlarged liver
Always present (100%)HP:0002240
Feeding difficulties
Always present (100%)HP:0011968
Hemolytic anaemia
Always present (100%)HP:0001878
Hepatosplenomegaly
Always present (100%)HP:0001433
Impaired vision
Always present (100%)HP:0000505
Increased total leukocyte count
Always present (100%)HP:0001974
Irritable mood
Always present (100%)HP:0000737
Jerking
Always present (100%)HP:0001336
Pectus excavatum
Always present (100%)HP:0000767
Poor eye contact
Always present (100%)HP:0000817
Postnatal failure to thrive
Always present (100%)HP:0001508
Pulmonary atelectasis
Always present (100%)HP:0100750
Pulmonary fibrosis
Always present (100%)HP:0002206
Respiratory failure
Always present (100%)HP:0002878
respiratory infections, recurrent
Always present (100%)HP:0002205
Respiratory insufficiency
Always present (100%)HP:0002093
Squint
Always present (100%)HP:0000486
Susceptibility to infection
Always present (100%)HP:0002719
Thinning of the corpus callosum
Always present (100%)HP:0033725
Truncal hypotonia
Always present (100%)HP:0008936
Unconjugated hyperbilirubinemia
Always present (100%)HP:0008282
Ventricular hypertrophy
Always present (100%)HP:0001714

Related Conditions

Hereditary degenerative disease of central nervous system(parent)
Chronic nervous system disease(parent)
Connective tissue hereditary disorder(parent)
Recessive hereditary disorder (autosomal)(parent)
Progressive lung fibrosis(parent)

Quick Facts

SNOMED CT
1348304006
UMLS CUI
C4748939
Fully Specified Name
Fibrosis, neurodegeneration, cerebral angiomatosis 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.