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9527009: Tetrasomy 12p syndrome (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module
16673017 Killian-Teschler-Nicola syndrome en Synonym Active Entire term case sensitive SNOMED CT core module
16674011 Pallister mosaic syndrome en Synonym Active Entire term case sensitive SNOMED CT core module
3010792013 Pallister-Killian syndrome en Synonym Active Entire term case sensitive SNOMED CT core module
4589822012 Isochromosome 12p syndrome en Synonym Active Entire term case insensitive SNOMED CT core module
4589823019 Tetrasomy 12p syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
4589824013 Tetrasomy 12p syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Tetrasomy 12p syndrome Is a Anomaly of chromosome pair 12 true Inferred relationship Existential restriction modifier
Tetrasomy 12p syndrome Finding site Chromosome pair 12 false Inferred relationship Existential restriction modifier 1
Tetrasomy 12p syndrome Associated morphology Tetrasomy true Inferred relationship Existential restriction modifier 2
Tetrasomy 12p syndrome Associated morphology Alteration of chromosome structure false Inferred relationship Existential restriction modifier
Tetrasomy 12p syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier
Tetrasomy 12p syndrome Finding site Sex chromosome false Inferred relationship Existential restriction modifier
Tetrasomy 12p syndrome Associated morphology Congenital anomaly false Inferred relationship Existential restriction modifier 1
Tetrasomy 12p syndrome Finding site Chromosome pair 12 false Inferred relationship Existential restriction modifier 1
Tetrasomy 12p syndrome Associated morphology Congenital anomaly false Inferred relationship Existential restriction modifier
Tetrasomy 12p syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Tetrasomy 12p syndrome Associated morphology Cellular AND/OR subcellular abnormality false Inferred relationship Existential restriction modifier 1
Tetrasomy 12p syndrome Finding site Chromosome pair 12 true Inferred relationship Existential restriction modifier 1
Tetrasomy 12p syndrome Is a Intellectual disability true Inferred relationship Existential restriction modifier
Tetrasomy 12p syndrome Is a Multiple system malformation syndrome true Inferred relationship Existential restriction modifier
Tetrasomy 12p syndrome Associated morphology Tetrasomy true Inferred relationship Existential restriction modifier 1
Tetrasomy 12p syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 1
Tetrasomy 12p syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 2
Tetrasomy 12p syndrome Finding site Short arm of chromosome true Inferred relationship Existential restriction modifier 2
Tetrasomy 12p syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 2
Tetrasomy 12p syndrome Interprets Intellectual ability true Inferred relationship Existential restriction modifier 3
Tetrasomy 12p syndrome Has interpretation Impaired true Inferred relationship Existential restriction modifier 3
Tetrasomy 12p syndrome Interprets Adaptation behavior true Inferred relationship Existential restriction modifier 4
Tetrasomy 12p syndrome Has interpretation Impaired true Inferred relationship Existential restriction modifier 4
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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