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53392002: Anomaly of chromosome pair 16 (disorder)

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
88771011 Anomaly of chromosome pair 16 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
791506016 Anomaly of chromosome pair 16 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
88771011 Anomaly of chromosome pair 16 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
88771011 Anomaly of chromosome pair 16 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
791506016 Anomaly of chromosome pair 16 (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
791506016 Anomaly of chromosome pair 16 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
994331000172118 anomalie du chromosome 16 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
994331000172118 anomalie du chromosome 16 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

29 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Anomaly of chromosome pair 16 Is a Anomaly of sex chromosome false Inferred relationship Existential restriction modifier (core metadata concept)
Anomaly of chromosome pair 16 Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
Anomaly of chromosome pair 16 Associated morphology Alteration of chromosome structure false Inferred relationship Existential restriction modifier (core metadata concept)
Anomaly of chromosome pair 16 Finding site Sex chromosome false Inferred relationship Existential restriction modifier (core metadata concept)
Anomaly of chromosome pair 16 Finding site Chromosome pair 16 (cell structure) false Inferred relationship Existential restriction modifier (core metadata concept) 1
Anomaly of chromosome pair 16 Is a Anomaly of chromosome pair true Inferred relationship Existential restriction modifier (core metadata concept)
Anomaly of chromosome pair 16 Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 1
Anomaly of chromosome pair 16 Finding site Chromosome pair 16 (cell structure) false Inferred relationship Existential restriction modifier (core metadata concept) 1
Anomaly of chromosome pair 16 Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept)
Anomaly of chromosome pair 16 Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Anomaly of chromosome pair 16 Associated morphology Cellular AND/OR subcellular abnormality true Inferred relationship Existential restriction modifier (core metadata concept) 1
Anomaly of chromosome pair 16 Finding site Chromosome pair 16 (cell structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group
16q partial monosomy syndrome Is a False Anomaly of chromosome pair 16 Inferred relationship Existential restriction modifier (core metadata concept)
16q partial trisomy syndrome Is a False Anomaly of chromosome pair 16 Inferred relationship Existential restriction modifier (core metadata concept)
Complete trisomy 16 syndrome Is a True Anomaly of chromosome pair 16 Inferred relationship Existential restriction modifier (core metadata concept)
16p partial trisomy syndrome Is a False Anomaly of chromosome pair 16 Inferred relationship Existential restriction modifier (core metadata concept)
Chromosome 16p11.2 deletion syndrome (disorder) Is a False Anomaly of chromosome pair 16 Inferred relationship Existential restriction modifier (core metadata concept)
16p11.2p12.2 microdeletion syndrome Is a False Anomaly of chromosome pair 16 Inferred relationship Existential restriction modifier (core metadata concept)
16p13.11 microdeletion syndrome is a recently described syndrome characterised by developmental delay, microcephaly, epilepsy, short stature, facial dysmorphism and behavioural problems. Is a False Anomaly of chromosome pair 16 Inferred relationship Existential restriction modifier (core metadata concept)
Deletion of part of chromosome 16 (disorder) Is a True Anomaly of chromosome pair 16 Inferred relationship Existential restriction modifier (core metadata concept)
Partial trisomy of chromosome 16 Is a True Anomaly of chromosome pair 16 Inferred relationship Existential restriction modifier (core metadata concept)
Ring chromosome 16 syndrome Is a True Anomaly of chromosome pair 16 Inferred relationship Existential restriction modifier (core metadata concept)
Mosaic trisomy 16 syndrome Is a True Anomaly of chromosome pair 16 Inferred relationship Existential restriction modifier (core metadata concept)
Maternal uniparental disomy of chromosome 16 Is a True Anomaly of chromosome pair 16 Inferred relationship Existential restriction modifier (core metadata concept)
16p12.1p12.3 triplication syndrome Is a True Anomaly of chromosome pair 16 Inferred relationship Existential restriction modifier (core metadata concept)
Frontotemporal dementia due to FUS mutation Due to True Anomaly of chromosome pair 16 Inferred relationship Existential restriction modifier (core metadata concept) 3

Reference Sets

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