233663004: Primary ciliary dyskinesia due to transposition of ciliary microtubules (disorder)

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

\Functional finding\Mucociliary clearance defect\Inherited mucociliary clearance defect\Immotile cilia syndrome\Primary ciliary dyskinesia due to transposition of ciliary microtubules

\Respiratory finding\Disorder of respiratory system (disorder)\...

\Congenital malformation of the respiratory system (disorder)\Immotile cilia syndrome\Primary ciliary dyskinesia due to transposition of ciliary microtubules

\Mucociliary clearance defect\Inherited mucociliary clearance defect\Immotile cilia syndrome\Primary ciliary dyskinesia due to transposition of ciliary microtubules

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Inherited mucociliary clearance defect\Immotile cilia syndrome\Primary ciliary dyskinesia due to transposition of ciliary microtubules
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Immotile cilia syndrome\Primary ciliary dyskinesia due to transposition of ciliary microtubules
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Immotile cilia syndrome\Primary ciliary dyskinesia due to transposition of ciliary microtubules
\Disease\Disorder of body system\Hereditary disorder by system\Inherited mucociliary clearance defect\Immotile cilia syndrome\Primary ciliary dyskinesia due to transposition of ciliary microtubules
\Disease\Disorder of body system\Disorder of respiratory system (disorder)\Congenital malformation of the respiratory system (disorder)\Immotile cilia syndrome\Primary ciliary dyskinesia due to transposition of ciliary microtubules
\Disease\Disorder of body system\Disorder of respiratory system (disorder)\Mucociliary clearance defect\Inherited mucociliary clearance defect\Immotile cilia syndrome\Primary ciliary dyskinesia due to transposition of ciliary microtubules
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Malformation sequence\Immotile cilia syndrome\Primary ciliary dyskinesia due to transposition of ciliary microtubules
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation of the respiratory system (disorder)\Immotile cilia syndrome\Primary ciliary dyskinesia due to transposition of ciliary microtubules
\Disease\Developmental disorder\Developmental hereditary disorder\Immotile cilia syndrome\Primary ciliary dyskinesia due to transposition of ciliary microtubules
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Malformation sequence\Immotile cilia syndrome\Primary ciliary dyskinesia due to transposition of ciliary microtubules
\Disease\Developmental disorder\Congenital malformation\Congenital malformation of the respiratory system (disorder)\Immotile cilia syndrome\Primary ciliary dyskinesia due to transposition of ciliary microtubules

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

Descriptions:

Id Description Lang Type Status Case? Module

350128019 Primary ciliary dyskinesia due to transposition of ciliary microtubules en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

621877011 Primary ciliary dyskinesia due to transposition of ciliary microtubules (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2599271000052110 primär ciliär dyskinesi orsakad av transposition av ciliernas mikrotubuli sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Primary ciliary dyskinesia due to transposition of ciliary microtubules	Is a	Immotile cilia syndrome	true	Inferred relationship	Some
Primary ciliary dyskinesia due to transposition of ciliary microtubules	Occurrence	Congenital	false	Inferred relationship	Some
Primary ciliary dyskinesia due to transposition of ciliary microtubules	Associated morphology	medfödd missbildning	false	Inferred relationship	Some
Primary ciliary dyskinesia due to transposition of ciliary microtubules	Occurrence	Congenital	true	Inferred relationship	Some	1
Primary ciliary dyskinesia due to transposition of ciliary microtubules	Associated morphology	utvecklingsabnormitet	false	Inferred relationship	Some	1
Primary ciliary dyskinesia due to transposition of ciliary microtubules	Associated morphology	defekt	false	Inferred relationship	Some	2
Primary ciliary dyskinesia due to transposition of ciliary microtubules	Finding site	Respiratory tract structure	false	Inferred relationship	Some	2
Primary ciliary dyskinesia due to transposition of ciliary microtubules	Has interpretation	Impaired	true	Inferred relationship	Some	3
Primary ciliary dyskinesia due to transposition of ciliary microtubules	Interprets	Mucociliary clearance	true	Inferred relationship	Some	3
Primary ciliary dyskinesia due to transposition of ciliary microtubules	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Primary ciliary dyskinesia due to transposition of ciliary microtubules	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Primary ciliary dyskinesia due to transposition of ciliary microtubules	Finding site	Respiratory tract structure	true	Inferred relationship	Some	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
350128019	Primary ciliary dyskinesia due to transposition of ciliary microtubules	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
621877011	Primary ciliary dyskinesia due to transposition of ciliary microtubules (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2599271000052110	primär ciliär dyskinesi orsakad av transposition av ciliernas mikrotubuli	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)