9527009: Tetrasomy 12p syndrome (disorder)

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

\Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intelligenzminderung\Tetrasomy 12p syndrome (disorder)

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intelligenzminderung\Tetrasomy 12p syndrome (disorder)
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intelligenzminderung\Tetrasomy 12p syndrome (disorder)
\Functional finding\Intelligence finding\Intellectual ability - finding\Intelligenzminderung\Tetrasomy 12p syndrome (disorder)

\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Tetrasomy 12p syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 12\Tetrasomy 12p syndrome (disorder)
\Disease\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 12\Tetrasomy 12p syndrome (disorder)
\Disease\Developmental disorder (disorder)\Neurodevelopmental disorder\Intelligenzminderung\Tetrasomy 12p syndrome (disorder)
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Tetrasomy 12p syndrome (disorder)

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
Tetrasomy 12p syndrome (disorder)	Is a	Anomaly of chromosome pair 12	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Tetrasomy 12p syndrome (disorder)	Finding site	Chromosome pair 12	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Tetrasomy 12p syndrome (disorder)	Associated morphology	Tetrasomy	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Tetrasomy 12p syndrome (disorder)	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Tetrasomy 12p syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Tetrasomy 12p syndrome (disorder)	Finding site	Sex chromosome	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Tetrasomy 12p syndrome (disorder)	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Tetrasomy 12p syndrome (disorder)	Finding site	Chromosome pair 12	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Tetrasomy 12p syndrome (disorder)	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Tetrasomy 12p syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Tetrasomy 12p syndrome (disorder)	Associated morphology	Cellular AND/OR subcellular abnormality	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Tetrasomy 12p syndrome (disorder)	Finding site	Chromosome pair 12	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Tetrasomy 12p syndrome (disorder)	Is a	Intelligenzminderung	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Tetrasomy 12p syndrome (disorder)	Is a	Multiple system malformation syndrome	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Tetrasomy 12p syndrome (disorder)	Associated morphology	Tetrasomy	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Tetrasomy 12p syndrome (disorder)	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Tetrasomy 12p syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Tetrasomy 12p syndrome (disorder)	Finding site	Short arm of chromosome	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Tetrasomy 12p syndrome (disorder)	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Tetrasomy 12p syndrome (disorder)	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Tetrasomy 12p syndrome (disorder)	Has interpretation	Impaired (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Tetrasomy 12p syndrome (disorder)	Interprets	Adaptation behavior	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Tetrasomy 12p syndrome (disorder)	Has interpretation	Impaired (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4

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
16673017	Killian-Teschler-Nicola syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
16674011	Pallister mosaic syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3010792013	Pallister-Killian syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4589822012	Isochromosome 12p syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4589823019	Tetrasomy 12p syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4589824013	Tetrasomy 12p syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
16672010	Tetrasomy 12p	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
16672010	Tetrasomy 12p	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
16673017	Killian-Teschler-Nicola syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
16674011	Pallister mosaic syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
839389011	Tetrasomy 12p (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
839389011	Tetrasomy 12p (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3010792013	Pallister-Killian syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4589822012	Isochromosome 12p syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4589823019	Tetrasomy 12p syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4589824013	Tetrasomy 12p syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3448711001000118	Tetrasomie 12p	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
917881000172118	tétrasomie 12p	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1011001000172115	isochromosome 12p en mosaïque	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
917881000172118	tétrasomie 12p	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1011001000172115	isochromosome 12p en mosaïque	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3448711001000118	Tetrasomie 12p	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module