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74769007: Anomaly of chromosome pair 1 (disorder)

Status: current, Defined. Date: 31-Jul 2014. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
124173018 Anomaly of chromosome pair 1 en Synonym Active Case insensitive SNOMED CT core
815304016 Anomaly of chromosome pair 1 (disorder) en Fully specified name Active Case insensitive SNOMED CT core

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

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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