716180009: syndroom van odontomen en dysfagie (aandoening)

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

\Digestive system finding (finding)\Disorder of digestive system (disorder)\...

\Digestive system hereditary disorder (disorder)\Odontoma dysphagia syndrome (disorder)

\Disorder of digestive tract (disorder)\Disorder of upper digestive tract (disorder)\Dysphagia\Odontoma dysphagia syndrome (disorder)

\Disorder of digestive system specific to fetus OR newborn\Odontoma dysphagia syndrome (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Digestive system hereditary disorder (disorder)\Odontoma dysphagia syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Odontoma dysphagia syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Odontoma dysphagia syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Disorder of digestive system specific to fetus OR newborn\Odontoma dysphagia syndrome (disorder)
\Disease\Neoplasm and/or hamartoma (disorder)\Neoplastic disease (disorder)\Benign neoplastic disease\Odontoma dysphagia syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Digestive system hereditary disorder (disorder)\Odontoma dysphagia syndrome (disorder)
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Digestive system hereditary disorder (disorder)\Odontoma dysphagia syndrome (disorder)
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Disorder of upper digestive tract (disorder)\Dysphagia\Odontoma dysphagia syndrome (disorder)
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\Odontoma dysphagia syndrome (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Odontoma dysphagia syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Odontoma dysphagia syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Odontoma dysphagia syndrome (disorder)	Is a	Dysphagia	true	Inferred relationship	Some
Odontoma dysphagia syndrome (disorder)	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
Odontoma dysphagia syndrome (disorder)	Is a	Digestive system hereditary disorder (disorder)	true	Inferred relationship	Some
Odontoma dysphagia syndrome (disorder)	Finding site	Upper digestive tract structure	true	Inferred relationship	Some	2
Odontoma dysphagia syndrome (disorder)	Interprets	observatie betreffende functioneren	false	Inferred relationship	Some
Odontoma dysphagia syndrome (disorder)	Associated morphology	gebrekkige ontwikkeling (afwijkende morfologie)	false	Inferred relationship	Some	3
Odontoma dysphagia syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	3
Odontoma dysphagia syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Odontoma dysphagia syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Odontoma dysphagia syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Odontoma dysphagia syndrome (disorder)	Interprets	Function (observable entity)	false	Inferred relationship	Some	3
Odontoma dysphagia syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Odontoma dysphagia syndrome (disorder)	Associated morphology	Benign odontoma	true	Inferred relationship	Some	3
Odontoma dysphagia syndrome (disorder)	Is a	Benign neoplastic disease	true	Inferred relationship	Some
Odontoma dysphagia syndrome (disorder)	Is a	Disorder of digestive system specific to fetus OR newborn	true	Inferred relationship	Some

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
3304990013	Odontoma dysphagia syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3304991012	Odontoma dysphagia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3304992017	Boder syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
6616781000146115	syndroom van Bader	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6730391000146115	syndroom van odontomatose en stenose van aorta en oesofagus	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6730401000146117	syndroom van odontomen en dysfagie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6856561000146116	syndroom van Boder	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6856571000146110	syndroom van odontomen en dysfagie (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
3304993010	Odontoma-dysphagia syndrome is a malformation syndrome, with characteristics of odontomas and severe dysphagia. Less than ten cases have been reported so far. Three of the reported patients manifested multiple odontomas. Occasionally, cardiac, renal and hepatic involvement has been described. In several cases, autosomal dominant inheritance has been suspected. Currently, there are no genes associated with this condition.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core