205728002: Duplication of chromosome (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\Chromosomal disorder (disorder)\Duplication of chromosome (disorder)

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

315494017 Duplication of chromosome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

591135018 Duplication of chromosome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

315494017 Duplication of chromosome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

315494017 Duplication of chromosome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

591135018 Duplication of chromosome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

591135018 Duplication of chromosome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

340381000077115 duplication chromosomique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

340381000077115 duplication chromosomique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Duplication of chromosome (disorder)	Is a	Congenital chromosomal disease	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Duplication of chromosome (disorder)	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Duplication of chromosome (disorder)	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Duplication of chromosome (disorder)	Finding site	Chromosome structure (cell structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Duplication of chromosome (disorder)	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Duplication of chromosome (disorder)	Is a	Chromosomal disorder (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Duplication of chromosome (disorder)	Finding site	Chromosome structure (cell structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Duplication of chromosome (disorder)	Finding site	Chromosome structure (cell structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Autosomal duplication (disorder)	Is a	True	Duplication of chromosome (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
22q11.2 duplication syndrome (disorder)	Is a	False	Duplication of chromosome (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Methyl-cytosine phosphate guanine binding protein-2 duplication syndrome (disorder)	Is a	False	Duplication of chromosome (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
3q29 microduplication	Is a	False	Duplication of chromosome (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare chromosomal anomaly clinically characterized by mild to severe intellectual disability, severe developmental delay (psychomotor and speech development), hypotonia with tendency to later develop progressive hypertonia, and characteristic facial features. The main congenital anomalies associated include central nervous system (CNS) malformations such as hypoplasia/agenesis of the corpus callosum (80%), skeletal abnormalities such as scoliosis/kyphosis or dislocated hips (60%), and congenital heart defects (25%).	Is a	True	Duplication of chromosome (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Chromosome Xq27.3q28 duplication syndrome	Is a	False	Duplication of chromosome (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Xp22.13p22.2 duplication syndrome	Is a	True	Duplication of chromosome (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets