70452003: Anomaly of chromosome pair 22 (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 22

\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 22

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

117038011 Anomaly of chromosome pair 22 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

810510017 Anomaly of chromosome pair 22 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

117038011 Anomaly of chromosome pair 22 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

117038011 Anomaly of chromosome pair 22 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

810510017 Anomaly of chromosome pair 22 (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

810510017 Anomaly of chromosome pair 22 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

1020951000172115 anomalie du chromosome 22 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

1020951000172115 anomalie du chromosome 22 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 22	Is a	Anomaly of sex chromosome	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Anomaly of chromosome pair 22	Finding site	Chromosome pair 22	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Anomaly of chromosome pair 22	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Anomaly of chromosome pair 22	Finding site	Sex chromosome	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Anomaly of chromosome pair 22	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Anomaly of chromosome pair 22	Is a	Anomaly of chromosome pair	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Anomaly of chromosome pair 22	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Anomaly of chromosome pair 22	Finding site	Chromosome pair 22	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Anomaly of chromosome pair 22	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Anomaly of chromosome pair 22	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Anomaly of chromosome pair 22	Associated morphology	Cellular AND/OR subcellular abnormality	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Anomaly of chromosome pair 22	Finding site	Chromosome pair 22	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
An autosomal anomaly with characteristics of variable clinical features, most commonly including global developmental delay, hypotonia, growth retardation with microcephaly, intellectual disability with severe speech delay, seizures or abnormal EEG, autistic spectrum disorder and other behavioural characteristics.	Is a	True	Anomaly of chromosome pair 22	Inferred relationship	Existential restriction modifier (core metadata concept)
22q partial monosomy	Is a	False	Anomaly of chromosome pair 22	Inferred relationship	Existential restriction modifier (core metadata concept)
Cat eye syndrome (disorder)	Is a	False	Anomaly of chromosome pair 22	Inferred relationship	Existential restriction modifier (core metadata concept)
22q partial trisomy (disorder)	Is a	False	Anomaly of chromosome pair 22	Inferred relationship	Existential restriction modifier (core metadata concept)
Complete trisomy 22 syndrome (disorder)	Is a	False	Anomaly of chromosome pair 22	Inferred relationship	Existential restriction modifier (core metadata concept)
22q13.3 deletion syndrome	Is a	False	Anomaly of chromosome pair 22	Inferred relationship	Existential restriction modifier (core metadata concept)
22q11.2 duplication syndrome (disorder)	Is a	False	Anomaly of chromosome pair 22	Inferred relationship	Existential restriction modifier (core metadata concept)
Deletion of part of chromosome 22 (disorder)	Is a	True	Anomaly of chromosome pair 22	Inferred relationship	Existential restriction modifier (core metadata concept)
Partial trisomy of chromosome 22 (disorder)	Is a	False	Anomaly of chromosome pair 22	Inferred relationship	Existential restriction modifier (core metadata concept)
Trisomy 22	Is a	True	Anomaly of chromosome pair 22	Inferred relationship	Existential restriction modifier (core metadata concept)
Maternal uniparental disomy of chromosome 22	Is a	True	Anomaly of chromosome pair 22	Inferred relationship	Existential restriction modifier (core metadata concept)
Monosomy 22 syndrome (disorder)	Is a	True	Anomaly of chromosome pair 22	Inferred relationship	Existential restriction modifier (core metadata concept)

Reference Sets