233664005: Immotile cilia syndrome due to defective radial spokes (disorder)

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

\Functional finding\Finding of respiratory function (finding)\Mucociliary clearance defect\Inherited mucociliary clearance defect\Immotile cilia syndrome\Immotile cilia syndrome due to defective radial spokes

\Respiratory finding\Finding of respiration\Finding of respiratory function (finding)\Mucociliary clearance defect\Inherited mucociliary clearance defect\Immotile cilia syndrome\Immotile cilia syndrome due to defective radial spokes
\Respiratory finding\Disorder of respiratory system\Mucociliary clearance defect\Inherited mucociliary clearance defect\Immotile cilia syndrome\Immotile cilia syndrome due to defective radial spokes
\Respiratory finding\Disorder of respiratory system\Respiratory condition of fetus OR newborn\Congenital malformation of the respiratory system\Immotile cilia syndrome\Immotile cilia syndrome due to defective radial spokes

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Inherited mucociliary clearance defect\Immotile cilia syndrome\Immotile cilia syndrome due to defective radial spokes
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Immotile cilia syndrome\Immotile cilia syndrome due to defective radial spokes
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Immotile cilia syndrome\Immotile cilia syndrome due to defective radial spokes
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital malformation syndrome\Malformation sequence\Immotile cilia syndrome\Immotile cilia syndrome due to defective radial spokes
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital malformation of the respiratory system\Immotile cilia syndrome\Immotile cilia syndrome due to defective radial spokes
\Disease\Disorder of foetus and/or newborn\Respiratory condition of fetus OR newborn\Congenital malformation of the respiratory system\Immotile cilia syndrome\Immotile cilia syndrome due to defective radial spokes
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Inherited mucociliary clearance defect\Immotile cilia syndrome\Immotile cilia syndrome due to defective radial spokes
\Disease\Disorder of body system\Disorder of respiratory system\Mucociliary clearance defect\Inherited mucociliary clearance defect\Immotile cilia syndrome\Immotile cilia syndrome due to defective radial spokes
\Disease\Disorder of body system\Disorder of respiratory system\Respiratory condition of fetus OR newborn\Congenital malformation of the respiratory system\Immotile cilia syndrome\Immotile cilia syndrome due to defective radial spokes
\Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Immotile cilia syndrome\Immotile cilia syndrome due to defective radial spokes
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital malformation syndrome\Malformation sequence\Immotile cilia syndrome\Immotile cilia syndrome due to defective radial spokes
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital malformation of the respiratory system\Immotile cilia syndrome\Immotile cilia syndrome due to defective radial spokes

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Immotile cilia syndrome due to defective radial spokes	Is a	Immotile cilia syndrome	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Immotile cilia syndrome due to defective radial spokes	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Immotile cilia syndrome due to defective radial spokes	Associated morphology	Congenital malformation	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Immotile cilia syndrome due to defective radial spokes	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Immotile cilia syndrome due to defective radial spokes	Associated morphology	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Immotile cilia syndrome due to defective radial spokes	Associated morphology	Defect	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Immotile cilia syndrome due to defective radial spokes	Finding site	Respiratory tract structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Immotile cilia syndrome due to defective radial spokes	Has interpretation	Impaired (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Immotile cilia syndrome due to defective radial spokes	Interprets	Mucociliary clearance	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Immotile cilia syndrome due to defective radial spokes	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Immotile cilia syndrome due to defective radial spokes	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Immotile cilia syndrome due to defective radial spokes	Finding site	Respiratory tract structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
350129010	Immotile cilia syndrome due to defective radial spokes	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
621879014	Immotile cilia syndrome due to defective radial spokes (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
350129010	Immotile cilia syndrome due to defective radial spokes	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
350129010	Immotile cilia syndrome due to defective radial spokes	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
621879014	Immotile cilia syndrome due to defective radial spokes (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
621879014	Immotile cilia syndrome due to defective radial spokes (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4987441000241114	syndrome des cils immobiles dû à un déficit des ponts radiaires	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
4987441000241114	syndrome des cils immobiles dû à un déficit des ponts radiaires	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module