48082007: Anomaly of chromosome pair 8 (disorder)

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

\Disorder of foetus and/or newborn\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

80127019 Anomaly of chromosome pair 8 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

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 Only initial character 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

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	Existential restriction modifier (core metadata concept)
Anomaly of chromosome pair 8	Finding site	Chromosome pair 8	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Anomaly of chromosome pair 8	Finding site	Sex chromosome	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Anomaly of chromosome pair 8	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Anomaly of chromosome pair 8	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Anomaly of chromosome pair 8	Is a	Anomaly of chromosome pair	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Anomaly of chromosome pair 8	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Anomaly of chromosome pair 8	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Anomaly of chromosome pair 8	Finding site	Chromosome pair 8	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Anomaly of chromosome pair 8	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Anomaly of chromosome pair 8	Associated morphology	Cellular AND/OR subcellular abnormality	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Anomaly of chromosome pair 8	Finding site	Chromosome pair 8	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
8q partial trisomy syndrome	Is a	False	Anomaly of chromosome pair 8	Inferred relationship	Existential restriction modifier (core metadata concept)
8p partial monosomy syndrome (disorder)	Is a	False	Anomaly of chromosome pair 8	Inferred relationship	Existential restriction modifier (core metadata concept)
8q partial monosomy syndrome	Is a	False	Anomaly of chromosome pair 8	Inferred relationship	Existential restriction modifier (core metadata concept)
Complete trisomy 8 syndrome	Is a	True	Anomaly of chromosome pair 8	Inferred relationship	Existential restriction modifier (core metadata concept)
8p partial trisomy syndrome	Is a	False	Anomaly of chromosome pair 8	Inferred relationship	Existential restriction modifier (core metadata concept)
Ring chromosome 8 syndrome	Is a	True	Anomaly of chromosome pair 8	Inferred relationship	Existential restriction modifier (core metadata concept)
Mosaic trisomy 8 syndrome (disorder)	Is a	True	Anomaly of chromosome pair 8	Inferred relationship	Existential restriction modifier (core metadata concept)
Recombinant chromosome 8 syndrome (disorder)	Is a	True	Anomaly of chromosome pair 8	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	Anomaly of chromosome pair 8	Inferred relationship	Existential restriction modifier (core metadata concept)
Deletion of part of chromosome 8 (disorder)	Is a	True	Anomaly of chromosome pair 8	Inferred relationship	Existential restriction modifier (core metadata concept)
Partial trisomy of chromosome 8	Is a	True	Anomaly of chromosome pair 8	Inferred relationship	Existential restriction modifier (core metadata concept)

Reference Sets

Description inactivation indicator reference set