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1296528004: cystische fibrose door homozygote deltaF508-mutatie (aandoening)

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

\Functional 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:

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

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

GB English

US English

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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
14668611000146114	'cystic fibrosis' door homozygote F508del-mutatie	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
14668621000146116	taaislijmziekte door homozygote delta-F508-mutatie	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
14668631000146119	cystische fibrose door homozygote deltaF508-mutatie (aandoening)	nl	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
14668641000146110	cystische fibrose door homozygote deltaF508-mutatie	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)