59033006: Anomaly of chromosome pair 18 (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 18

\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 18

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

98106014 Anomaly of chromosome pair 18 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

797831016 Anomaly of chromosome pair 18 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

98106014 Anomaly of chromosome pair 18 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

98106014 Anomaly of chromosome pair 18 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

797831016 Anomaly of chromosome pair 18 (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

797831016 Anomaly of chromosome pair 18 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

996521000172116 anomalie du chromosome 18 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

996521000172116 anomalie du chromosome 18 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 18	Is a	Anomaly of sex chromosome	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Anomaly of chromosome pair 18	Finding site	Sex chromosome	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Anomaly of chromosome pair 18	Finding site	Chromosome pair 18	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Anomaly of chromosome pair 18	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Anomaly of chromosome pair 18	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Anomaly of chromosome pair 18	Is a	Anomaly of chromosome pair	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Anomaly of chromosome pair 18	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Anomaly of chromosome pair 18	Finding site	Chromosome pair 18	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Anomaly of chromosome pair 18	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Anomaly of chromosome pair 18	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Anomaly of chromosome pair 18	Associated morphology	Cellular AND/OR subcellular abnormality	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Anomaly of chromosome pair 18	Finding site	Chromosome pair 18	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Partial trisomy 18 in Edward's syndrome (disorder)	Is a	True	Anomaly of chromosome pair 18	Inferred relationship	Existential restriction modifier (core metadata concept)
18p partial trisomy syndrome	Is a	False	Anomaly of chromosome pair 18	Inferred relationship	Existential restriction modifier (core metadata concept)
18q partial monosomy syndrome	Is a	False	Anomaly of chromosome pair 18	Inferred relationship	Existential restriction modifier (core metadata concept)
Complete trisomy 18 syndrome	Is a	True	Anomaly of chromosome pair 18	Inferred relationship	Existential restriction modifier (core metadata concept)
18p partial monosomy syndrome	Is a	False	Anomaly of chromosome pair 18	Inferred relationship	Existential restriction modifier (core metadata concept)
18q partial trisomy syndrome	Is a	False	Anomaly of chromosome pair 18	Inferred relationship	Existential restriction modifier (core metadata concept)
An autosomal anomaly with characteristics of variable clinical features, most commonly including hypotonia, neonatal feeding and respiratory difficulties, microcephaly, global developmental delay and intellectual disability, growth hormone deficiency, hypothyroidism, hearing loss, aural atresia, dysmorphic facial features and behavioral characteristics.	Is a	True	Anomaly of chromosome pair 18	Inferred relationship	Existential restriction modifier (core metadata concept)
Tetrasomy 18p	Is a	True	Anomaly of chromosome pair 18	Inferred relationship	Existential restriction modifier (core metadata concept)
Deletion of part of chromosome 18 (disorder)	Is a	True	Anomaly of chromosome pair 18	Inferred relationship	Existential restriction modifier (core metadata concept)
Partial trisomy of chromosome 18 (disorder)	Is a	True	Anomaly of chromosome pair 18	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets