86204009: primaire ciliaire dyskinesie (aandoening)

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

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	Is a	Inherited mucociliary clearance defect	true	Inferred relationship	Some
Immotile cilia syndrome	Is a	Malformation sequence	true	Inferred relationship	Some
Immotile cilia syndrome	Occurrence	Congenital	false	Inferred relationship	Some
Immotile cilia syndrome	Associated morphology	Congenital malformation	false	Inferred relationship	Some
Immotile cilia syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Immotile cilia syndrome	Associated morphology	gebrekkige ontwikkeling (afwijkende morfologie)	false	Inferred relationship	Some	1
Immotile cilia syndrome	Associated morphology	defect	false	Inferred relationship	Some	2
Immotile cilia syndrome	Finding site	Respiratory tract structure	false	Inferred relationship	Some	2
Immotile cilia syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	3
Immotile cilia syndrome	Interprets	Mucociliary clearance	true	Inferred relationship	Some	3
Immotile cilia syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Immotile cilia syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Immotile cilia syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Immotile cilia syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Immotile cilia syndrome	Is a	Congenital malformation of the respiratory system (disorder)	true	Inferred relationship	Some
Immotile cilia syndrome	Finding site	Respiratory tract structure	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Primary ciliary dyskinesia due to transposition of ciliary microtubules	Is a	True	Immotile cilia syndrome	Inferred relationship	Some
Immotile cilia syndrome due to defective radial spokes	Is a	True	Immotile cilia syndrome	Inferred relationship	Some
Immotile cilia syndrome due to excessively long cilia	Is a	False	Immotile cilia syndrome	Inferred relationship	Some
Young's syndrome	Is a	True	Immotile cilia syndrome	Inferred relationship	Some
Rutland ciliary disorientation syndrome	Is a	True	Immotile cilia syndrome	Inferred relationship	Some
Kartagener syndrome	Is a	True	Immotile cilia syndrome	Inferred relationship	Some
Primary ciliary dyskinesia and retinitis pigmentosa syndrome (disorder)	Is a	False	Immotile cilia syndrome	Inferred relationship	Some

Reference Sets

Dutch pathology simple reference set (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
142944012	Immotile cilia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
142945013	Primary ciliary dyskinesia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
828419016	Immotile cilia syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1235106016	ICS - Immotile cilia syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1235107013	PCD - Primary ciliary dyskinesia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1235108015	Dysmotile cilia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1235109011	Polynesian bronchiectasis	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
62631000146115	primaire ciliaire dyskinesie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
944801000146119	primaire ciliaire dyskinesie (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
10301521000146118	Erfelijke aandoening met als kenmerken onbeweeglijkheid van de trilharen (cilia) leidend tot chronische neusholteontsteking en verwijde bronchiën, onbeweeglijkheid van de spermatozoa leidend tot onvruchtbaarheid bij mannen, en soms situs inversus (omgekeerde ligging van inwendige organen, hart ligt rechts in plaats van links).	nl	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)