719909009: Chromosome Xq28 trisomy (disorder)

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 28-Feb 2023. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3318425019 Trisomy Xq28 syndrome en Synonym (core metadata concept) Inactive Only initial character case insensitive (core metadata concept) SNOMED CT core
3318427010 Chromosome Xq28 trisomy syndrome (disorder) en Fully specified name Inactive Only initial character case insensitive (core metadata concept) SNOMED CT core
3318428017 Chromosome Xq28 trisomy syndrome en Synonym (core metadata concept) Inactive Only initial character case insensitive (core metadata concept) SNOMED CT core
4570721014 Chromosome Xq28 trisomy (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
4570722019 Chromosome Xq28 trisomy en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
4570723012 Trisomy Xq28 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3318426018 Distal Xq duplications refer to chromosomal disorders resulting from involvement of the long arm of the X chromosome (Xq). Clinical manifestations vary widely depending on the gender of the patient and on the gene content of the duplicated segment. The most frequently reported distal duplications involve the Xq28 segment and yield a phenotype including distinctive facial features, major axial hypotonia, severe developmental delay, severe feeding difficulties, abnormal genitalia and susceptibility to infections. Xq duplications may be caused either by an intrachromosomal duplication or by an unbalanced X/Y or X/autosome translocation. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
9979841000172117 trisomie Xq28 fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)
9979851000172115 trisomie chromosomique Xq28 fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)
4665241000172114 Xq28-duplicatiesyndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)
4665251000172111 trisomie van chromosoom Xq28 nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)
4665261000172113 trisomie Xq28 nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
trisomie chromosomique Xq28	Is a	Multiple malformation syndrome with facial defects as major feature	false	Inferred relationship	Some
trisomie chromosomique Xq28	Is a	retard mental	false	Inferred relationship	Some
trisomie chromosomique Xq28	Is a	Anomaly of chromosome X	false	Inferred relationship	Some
trisomie chromosomique Xq28	Is a	Trisomy and partial trisomy of autosome	false	Inferred relationship	Some
trisomie chromosomique Xq28	Occurrence	Congenital	false	Inferred relationship	Some	2
trisomie chromosomique Xq28	Occurrence	Congenital	false	Inferred relationship	Some	3
trisomie chromosomique Xq28	Associated morphology	Partial trisomy	false	Inferred relationship	Some	2
trisomie chromosomique Xq28	Finding site	Sex chromosome X	false	Inferred relationship	Some	2
trisomie chromosomique Xq28	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	3
trisomie chromosomique Xq28	Finding site	Face structure	false	Inferred relationship	Some	3
trisomie chromosomique Xq28	Is a	Intellectual disability	false	Inferred relationship	Some
trisomie chromosomique Xq28	Occurrence	Congenital	false	Inferred relationship	Some	1
trisomie chromosomique Xq28	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	1
trisomie chromosomique Xq28	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	2
trisomie chromosomique Xq28	Finding site	Face structure	false	Inferred relationship	Some	1
trisomie chromosomique Xq28	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	false	Inferred relationship	Some	1
trisomie chromosomique Xq28	Finding site	Long arm of chromosome	false	Inferred relationship	Some	1
trisomie chromosomique Xq28	Associated morphology	Partial trisomy	false	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
MECP2 duplication syndrome	Is a	False	trisomie chromosomique Xq28	Inferred relationship	Some
Distal Xq28 microduplication syndrome	Is a	False	trisomie chromosomique Xq28	Inferred relationship	Some

Reference Sets

Concept inactivation indicator reference set

POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)