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70452003: Anomaly of chromosome pair 22 (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
117038011 Anomaly of chromosome pair 22 en Synonym Active Entire term case insensitive SNOMED CT core module
117039015 Anomaly of chromosome pair 22, NOS en Synonym Inactive Only initial character case insensitive SNOMED CT core module
810510017 Anomaly of chromosome pair 22 (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

17 descendants. Search Descendants:

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
Anomaly of chromosome pair 22 Finding site Chromosome pair 22 false Inferred relationship Existential restriction modifier 1
Anomaly of chromosome pair 22 Associated morphology Alteration of chromosome structure false Inferred relationship Existential restriction modifier
Anomaly of chromosome pair 22 Finding site Sex chromosome false Inferred relationship Existential restriction modifier
Anomaly of chromosome pair 22 Occurrence Congenital false Inferred relationship Existential restriction modifier
Anomaly of chromosome pair 22 Is a Anomaly of chromosome pair true Inferred relationship Existential restriction modifier
Anomaly of chromosome pair 22 Associated morphology Congenital anomaly false Inferred relationship Existential restriction modifier 1
Anomaly of chromosome pair 22 Finding site Chromosome pair 22 false Inferred relationship Existential restriction modifier 1
Anomaly of chromosome pair 22 Associated morphology Congenital anomaly false Inferred relationship Existential restriction modifier
Anomaly of chromosome pair 22 Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Anomaly of chromosome pair 22 Associated morphology Cellular AND/OR subcellular abnormality true Inferred relationship Existential restriction modifier 1
Anomaly of chromosome pair 22 Finding site Chromosome pair 22 true Inferred relationship Existential restriction modifier 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Ring chromosome 22 syndrome Is a True Anomaly of chromosome pair 22 Inferred relationship Existential restriction modifier
22q partial monosomy Is a False Anomaly of chromosome pair 22 Inferred relationship Existential restriction modifier
Cat eye syndrome Is a False Anomaly of chromosome pair 22 Inferred relationship Existential restriction modifier
22q partial trisomy Is a False Anomaly of chromosome pair 22 Inferred relationship Existential restriction modifier
Complete trisomy 22 syndrome Is a False Anomaly of chromosome pair 22 Inferred relationship Existential restriction modifier
22q13.3 deletion syndrome Is a False Anomaly of chromosome pair 22 Inferred relationship Existential restriction modifier
22q11.2 duplication syndrome Is a False Anomaly of chromosome pair 22 Inferred relationship Existential restriction modifier
Deletion of part of chromosome 22 Is a True Anomaly of chromosome pair 22 Inferred relationship Existential restriction modifier
Partial trisomy of chromosome 22 Is a False Anomaly of chromosome pair 22 Inferred relationship Existential restriction modifier
Trisomy 22 Is a True Anomaly of chromosome pair 22 Inferred relationship Existential restriction modifier
Maternal uniparental disomy of chromosome 22 Is a True Anomaly of chromosome pair 22 Inferred relationship Existential restriction modifier
Monosomy 22 syndrome Is a True Anomaly of chromosome pair 22 Inferred relationship Existential restriction modifier

This concept is not in any reference sets

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