48082007: Anomaly of chromosome pair 8 (disorder)

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

\Fetal and/or neonatal disorder\Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 8

\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 8

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2014. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

80127019 Anomaly of chromosome pair 8 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

785611019 Anomaly of chromosome pair 8 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

939421000172119 anomalie du chromosome 8 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
Anomaly of chromosome pair 8	Is a	Anomaly of sex chromosome	false	Inferred relationship	Some
Anomaly of chromosome pair 8	Finding site	Chromosome pair 8	false	Inferred relationship	Some	1
Anomaly of chromosome pair 8	Finding site	Sex chromosome	false	Inferred relationship	Some
Anomaly of chromosome pair 8	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Some
Anomaly of chromosome pair 8	Occurrence	Congenital	false	Inferred relationship	Some
Anomaly of chromosome pair 8	Is a	Anomaly of chromosome pair	true	Inferred relationship	Some
Anomaly of chromosome pair 8	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	1
Anomaly of chromosome pair 8	Associated morphology	anomalie congénitale	false	Inferred relationship	Some
Anomaly of chromosome pair 8	Finding site	Chromosome pair 8	false	Inferred relationship	Some	1
Anomaly of chromosome pair 8	Occurrence	Congenital	true	Inferred relationship	Some	1
Anomaly of chromosome pair 8	Associated morphology	Cellular AND/OR subcellular abnormality	true	Inferred relationship	Some	1
Anomaly of chromosome pair 8	Finding site	Chromosome pair 8	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
8q partial trisomy syndrome	Is a	False	Anomaly of chromosome pair 8	Inferred relationship	Some
8p partial monosomy syndrome	Is a	False	Anomaly of chromosome pair 8	Inferred relationship	Some
8q partial monosomy syndrome	Is a	False	Anomaly of chromosome pair 8	Inferred relationship	Some
Complete trisomy 8 syndrome	Is a	True	Anomaly of chromosome pair 8	Inferred relationship	Some
8p partial trisomy syndrome	Is a	False	Anomaly of chromosome pair 8	Inferred relationship	Some
A rare chromosomal anomaly comprising variable parts of chromosome 8. The phenotype of mosaic or non-mosaic supernumerary r(8)/mar(8) ranges from almost normal to variable degrees of minor abnormalities, and growth and mental retardation overlapping with the well-known mosaic trisomy 8 syndrome.	Is a	True	Anomaly of chromosome pair 8	Inferred relationship	Some
A rare autosomal anomaly defined by the presence of three copies of chromosome 8 in some cells of the body, and clinically characterized by facial dysmorphism, typically deep palmar and plantar creases, mild intellectual deficit and joint, urinary, cardiac and skeletal anomalies.	Is a	True	Anomaly of chromosome pair 8	Inferred relationship	Some
Recombinant 8 (rec(8)) syndrome, also known as San Luis Valley syndrome, is a complex chromosomal disorder that is due to a parental pericentric inversion of chromosome 8 and is characterized by major congenital heart anomalies, urogenital malformations, moderate to severe intellectual deficiency and mild craniofacial dysmorphism.	Is a	True	Anomaly of chromosome pair 8	Inferred relationship	Some
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	Anomaly of chromosome pair 8	Inferred relationship	Some
Deletion of part of chromosome 8 (disorder)	Is a	True	Anomaly of chromosome pair 8	Inferred relationship	Some
Partial trisomy of chromosome 8	Is a	True	Anomaly of chromosome pair 8	Inferred relationship	Some

Reference Sets

Description inactivation indicator reference set