1296528004: Cystic fibrosis due to homozygous deltaF508 mutation (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Functional finding\Finding of respiratory function (finding)\Mucociliary clearance defect\Inherited mucociliary clearance defect\Cystic fibrosis\Cystic fibrosis due to homozygous deltaF508 mutation

\Respiratory finding\Finding of respiration\Finding of respiratory function (finding)\Mucociliary clearance defect\Inherited mucociliary clearance defect\Cystic fibrosis\Cystic fibrosis due to homozygous deltaF508 mutation
\Respiratory finding\Disorder of respiratory system (disorder)\Mucociliary clearance defect\Inherited mucociliary clearance defect\Cystic fibrosis\Cystic fibrosis due to homozygous deltaF508 mutation

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Inherited mucociliary clearance defect\Cystic fibrosis\Cystic fibrosis due to homozygous deltaF508 mutation
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Cystic fibrosis\Cystic fibrosis due to homozygous deltaF508 mutation
\Disease\Disorder of body system\Hereditary disorder by system\Inherited mucociliary clearance defect\Cystic fibrosis\Cystic fibrosis due to homozygous deltaF508 mutation
\Disease\Disorder of body system\Disorder of respiratory system (disorder)\Mucociliary clearance defect\Inherited mucociliary clearance defect\Cystic fibrosis\Cystic fibrosis due to homozygous deltaF508 mutation

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Dec 2023. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

5285692011 Cystic fibrosis due to homozygous deltaF508 mutation en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

5285693018 Cystic fibrosis due to homozygous deltaF508 mutation (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

5285694012 DeltaF508 homozygous cystic fibrosis en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

5285695013 DeltaF508 homozygous mucoviscidosis en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Cystic fibrosis due to homozygous deltaF508 mutation	Is a	Cystic fibrosis	true	Inferred relationship	Some
Cystic fibrosis due to homozygous deltaF508 mutation	Finding site	Respiratory tract structure	true	Inferred relationship	Some	2
Cystic fibrosis due to homozygous deltaF508 mutation	Interprets	Mucociliary clearance	true	Inferred relationship	Some	1
Cystic fibrosis due to homozygous deltaF508 mutation	Has interpretation	Impaired	true	Inferred relationship	Some	1

Inbound Relationships

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This concept is not in any reference sets