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1348304006: Fibrosis, neurodegeneration, cerebral angiomatosis syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Oct 2024. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5393193019 Fibrosis, neurodegeneration, cerebral angiomatosis syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5393194013 FINCA (fibrosis, neurodegeneration, cerebral angiomatosis) syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5393195014 Fibrosis, neurodegeneration, cerebral angiomatosis syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5393196010 Interstitial lung fibrosis, neurodegeneration, cerebral angiomatosis syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5393197018 A rare interstitial lung disease characterized by early-onset, severe, progressive lung disease manifesting by respiratory distress, neurological symptoms including axial hypotonia, developmental delay, irritability, dystonia, poor visual contact and seizures, and variable multisystemic involvement including malabsorption, progressive growth failure, recurrent infections, chronic hemolytic anemia and liver dysfunction. Kidney dysfunction, cardiac involvement including cardiomegaly and cardiac hypertrophy, decreased vision and strabismus have also been reported. Lung fibrosis may cause death in infancy from respiratory failure. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5393198011 A rare interstitial lung disease characterised by early-onset, severe, progressive lung disease manifesting by respiratory distress, neurological symptoms including axial hypotonia, developmental delay, irritability, dystonia, poor visual contact and seizures, and variable multisystemic involvement including malabsorption, progressive growth failure, recurrent infections, chronic haemolytic anaemia and liver dysfunction. Kidney dysfunction, cardiac involvement including cardiomegaly and cardiac hypertrophy, decreased vision and strabismus have also been reported. Lung fibrosis may cause death in infancy from respiratory failure. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Fibrosis, neurodegeneration, cerebral angiomatosis syndrome Is a Hereditary degenerative disease of central nervous system true Inferred relationship Some
Fibrosis, neurodegeneration, cerebral angiomatosis syndrome Is a Chronic nervous system disorder (disorder) true Inferred relationship Some
Fibrosis, neurodegeneration, cerebral angiomatosis syndrome Is a Interstitial lung disease true Inferred relationship Some
Fibrosis, neurodegeneration, cerebral angiomatosis syndrome Is a Connective tissue hereditary disorder (disorder) true Inferred relationship Some
Fibrosis, neurodegeneration, cerebral angiomatosis syndrome Is a Chronic lung disease (disorder) true Inferred relationship Some
Fibrosis, neurodegeneration, cerebral angiomatosis syndrome Is a Fibrosis of lung true Inferred relationship Some
Fibrosis, neurodegeneration, cerebral angiomatosis syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Fibrosis, neurodegeneration, cerebral angiomatosis syndrome Clinical course Progressive (qualifier value) true Inferred relationship Some 4
Fibrosis, neurodegeneration, cerebral angiomatosis syndrome Finding site Structure of central nervous system (body structure) true Inferred relationship Some 1
Fibrosis, neurodegeneration, cerebral angiomatosis syndrome Associated morphology Degenerative abnormality true Inferred relationship Some 1
Fibrosis, neurodegeneration, cerebral angiomatosis syndrome Finding site Structure of interstitial tissue of lung true Inferred relationship Some 2
Fibrosis, neurodegeneration, cerebral angiomatosis syndrome Associated morphology Fibrosis true Inferred relationship Some 2
Fibrosis, neurodegeneration, cerebral angiomatosis syndrome Is a Lesion of soft tissue (disorder) true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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