719583002: 17q11.2 microduplication syndrome (disorder)

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

\Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intelligenzminderung\17q11.2 microduplication syndrome is characterized by dysmorphic features and intellectual deficit.

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intelligenzminderung\17q11.2 microduplication syndrome is characterized by dysmorphic features and intellectual deficit.
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intelligenzminderung\17q11.2 microduplication syndrome is characterized by dysmorphic features and intellectual deficit.
\Functional finding\Intelligence finding\Intellectual ability - finding\Intelligenzminderung\17q11.2 microduplication syndrome is characterized by dysmorphic features and intellectual deficit.

\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\17q11.2 microduplication syndrome is characterized by dysmorphic features and intellectual deficit.
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\17q11.2 microduplication syndrome is characterized by dysmorphic features and intellectual deficit.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 17 (disorder)\Partial trisomy of chromosome 17 (disorder)\17q partial trisomy syndrome\17q11.2 microduplication syndrome is characterized by dysmorphic features and intellectual deficit.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 17 (disorder)\17q partial trisomy syndrome\17q11.2 microduplication syndrome is characterized by dysmorphic features and intellectual deficit.
\Disease\Chromosomal disorder (disorder)\Autosomal chromosomal disorder (disorder)\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 17 (disorder)\17q partial trisomy syndrome\17q11.2 microduplication syndrome is characterized by dysmorphic features and intellectual deficit.
\Disease\Chromosomal disorder (disorder)\Duplication of chromosome (disorder)\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 17 (disorder)\17q partial trisomy syndrome\17q11.2 microduplication syndrome is characterized by dysmorphic features and intellectual deficit.
\Disease\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 17 (disorder)\Partial trisomy of chromosome 17 (disorder)\17q partial trisomy syndrome\17q11.2 microduplication syndrome is characterized by dysmorphic features and intellectual deficit.
\Disease\Chromosomal disorder (disorder)\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 17 (disorder)\17q partial trisomy syndrome\17q11.2 microduplication syndrome is characterized by dysmorphic features and intellectual deficit.
\Disease\Developmental disorder (disorder)\Neurodevelopmental disorder\Intelligenzminderung\17q11.2 microduplication syndrome is characterized by dysmorphic features and intellectual deficit.
\Disease\Developmental disorder (disorder)\Developmental hereditary disorder\17q11.2 microduplication syndrome is characterized by dysmorphic features and intellectual deficit.

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
17q11.2 microduplication syndrome is characterized by dysmorphic features and intellectual deficit.	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
17q11.2 microduplication syndrome is characterized by dysmorphic features and intellectual deficit.	Is a	17q partial trisomy syndrome	true	Inferred relationship	Existential restriction modifier (core metadata concept)
17q11.2 microduplication syndrome is characterized by dysmorphic features and intellectual deficit.	Is a	retard mental	false	Inferred relationship	Existential restriction modifier (core metadata concept)
17q11.2 microduplication syndrome is characterized by dysmorphic features and intellectual deficit.	Associated morphology	Partial trisomy	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
17q11.2 microduplication syndrome is characterized by dysmorphic features and intellectual deficit.	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
17q11.2 microduplication syndrome is characterized by dysmorphic features and intellectual deficit.	Finding site	Chromosome pair 17 (cell structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
17q11.2 microduplication syndrome is characterized by dysmorphic features and intellectual deficit.	Is a	Intelligenzminderung	true	Inferred relationship	Existential restriction modifier (core metadata concept)
17q11.2 microduplication syndrome is characterized by dysmorphic features and intellectual deficit.	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
17q11.2 microduplication syndrome is characterized by dysmorphic features and intellectual deficit.	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
17q11.2 microduplication syndrome is characterized by dysmorphic features and intellectual deficit.	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
17q11.2 microduplication syndrome is characterized by dysmorphic features and intellectual deficit.	Has interpretation	Impaired (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
17q11.2 microduplication syndrome is characterized by dysmorphic features and intellectual deficit.	Interprets	Adaptation behavior	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
17q11.2 microduplication syndrome is characterized by dysmorphic features and intellectual deficit.	Has interpretation	Impaired (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3316813015	17q11.2 microduplication syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3316814014	17q11.2 microduplication syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3316815010	Trisomy 17q11.2	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3316816011	Grisart Destree syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402166012	17q11.2 microduplication syndrome is characterized by dysmorphic features and intellectual deficit.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402167015	17q11.2 microduplication syndrome is characterised by dysmorphic features and intellectual deficit.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3316813015	17q11.2 microduplication syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3316813015	17q11.2 microduplication syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3316814014	17q11.2 microduplication syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3316814014	17q11.2 microduplication syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3316815010	Trisomy 17q11.2	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3316815010	Trisomy 17q11.2	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3316816011	Grisart Destree syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3317001017	Syndrome that has characteristics of dysmorphic features and intellectual deficit. It has been described in seven patients within one family. 17q11.2 microduplication encompasses the NF1 region. The underlying mechanism may be non-allelic homologous recombination. The study of pedigree suggests that this microduplication segregates within the family for at least two generations. Two patients displayed a normal clinical presentation, suggesting an autosomal dominant pattern of inheritance with incomplete penetrance.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402166012	17q11.2 microduplication syndrome is characterized by dysmorphic features and intellectual deficit.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402167015	17q11.2 microduplication syndrome is characterised by dysmorphic features and intellectual deficit.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3429021001000118	Mikroduplikationssyndrom 17q11.2	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
953701000172115	syndrome de microduplication 17q11.2	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1019281000172116	dup(17)(q11.2)	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
953701000172115	syndrome de microduplication 17q11.2	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1019281000172116	dup(17)(q11.2)	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3429021001000118	Mikroduplikationssyndrom 17q11.2	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module