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74769007: Anomaly of chromosome pair 1 (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module
124173018 Anomaly of chromosome pair 1 en Synonym Active Entire term case insensitive SNOMED CT core module
124174012 Anomaly of chromosome pair 1, NOS en Synonym Inactive Only initial character case insensitive SNOMED CT core module
815304016 Anomaly of chromosome pair 1 (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

33 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Anomaly of chromosome pair 1 Is a Anomaly of sex chromosome false Inferred relationship Existential restriction modifier
Anomaly of chromosome pair 1 Finding site Chromosome pair 1 false Inferred relationship Existential restriction modifier 1
Anomaly of chromosome pair 1 Finding site Sex chromosome false Inferred relationship Existential restriction modifier
Anomaly of chromosome pair 1 Occurrence Congenital false Inferred relationship Existential restriction modifier
Anomaly of chromosome pair 1 Associated morphology Alteration of chromosome structure false Inferred relationship Existential restriction modifier
Anomaly of chromosome pair 1 Is a Anomaly of chromosome pair true Inferred relationship Existential restriction modifier
Anomaly of chromosome pair 1 Associated morphology Congenital anomaly false Inferred relationship Existential restriction modifier 1
Anomaly of chromosome pair 1 Associated morphology Congenital anomaly false Inferred relationship Existential restriction modifier
Anomaly of chromosome pair 1 Finding site Chromosome pair 1 false Inferred relationship Existential restriction modifier 1
Anomaly of chromosome pair 1 Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Anomaly of chromosome pair 1 Associated morphology Cellular AND/OR subcellular abnormality true Inferred relationship Existential restriction modifier 1
Anomaly of chromosome pair 1 Finding site Chromosome pair 1 true Inferred relationship Existential restriction modifier 1
Inbound Relationships Type Active Source Characteristic Refinability Group
1q partial monosomy Is a False Anomaly of chromosome pair 1 Inferred relationship Existential restriction modifier
1p partial monosomy Is a False Anomaly of chromosome pair 1 Inferred relationship Existential restriction modifier
Ring chromosome 1 syndrome Is a True Anomaly of chromosome pair 1 Inferred relationship Existential restriction modifier
1q partial trisomy syndrome Is a False Anomaly of chromosome pair 1 Inferred relationship Existential restriction modifier
1q21.1 microdeletion syndrome Is a False Anomaly of chromosome pair 1 Inferred relationship Existential restriction modifier
Chromosome 1p36 deletion syndrome Is a False Anomaly of chromosome pair 1 Inferred relationship Existential restriction modifier
1q41q42 microdeletion syndrome Is a False Anomaly of chromosome pair 1 Inferred relationship Existential restriction modifier
Distal monosomy 1q syndrome Is a False Anomaly of chromosome pair 1 Inferred relationship Existential restriction modifier
Partial trisomy of chromosome 1 Is a True Anomaly of chromosome pair 1 Inferred relationship Existential restriction modifier
Deletion of part of chromosome 1 Is a True Anomaly of chromosome pair 1 Inferred relationship Existential restriction modifier
Paternal uniparental disomy of chromosome 1 Is a True Anomaly of chromosome pair 1 Inferred relationship Existential restriction modifier
Maternal uniparental disomy of chromosome 1 Is a True Anomaly of chromosome pair 1 Inferred relationship Existential restriction modifier
Mosaic trisomy 1 syndrome Is a True Anomaly of chromosome pair 1 Inferred relationship Existential restriction modifier
Distal trisomy 1p Is a False Anomaly of chromosome pair 1 Inferred relationship Existential restriction modifier
Distal trisomy 1q Is a False Anomaly of chromosome pair 1 Inferred relationship Existential restriction modifier

This concept is not in any reference sets

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