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5051002: Anomaly of chromosome pair 9 (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
9456010 Anomaly of chromosome pair 9 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
788307018 Anomaly of chromosome pair 9 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
981801000172116 anomalie du chromosome 9 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

31 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Anomaly of chromosome pair 9 Is a Anomaly of sex chromosome false Inferred relationship Some
Anomaly of chromosome pair 9 Finding site Sex chromosome false Inferred relationship Some
Anomaly of chromosome pair 9 Occurrence Congenital false Inferred relationship Some
Anomaly of chromosome pair 9 Finding site Chromosome pair 9 false Inferred relationship Some 1
Anomaly of chromosome pair 9 Associated morphology Alteration of chromosome structure false Inferred relationship Some
Anomaly of chromosome pair 9 Is a Anomaly of chromosome pair true Inferred relationship Some
Anomaly of chromosome pair 9 Associated morphology anomalie congénitale false Inferred relationship Some 1
Anomaly of chromosome pair 9 Associated morphology anomalie congénitale false Inferred relationship Some
Anomaly of chromosome pair 9 Finding site Chromosome pair 9 false Inferred relationship Some 1
Anomaly of chromosome pair 9 Occurrence Congenital true Inferred relationship Some 1
Anomaly of chromosome pair 9 Finding site Chromosome pair 9 true Inferred relationship Some 1
Anomaly of chromosome pair 9 Associated morphology Cellular AND/OR subcellular abnormality true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
9q partial trisomy syndrome Is a False Anomaly of chromosome pair 9 Inferred relationship Some
9q partial monosomy syndrome Is a False Anomaly of chromosome pair 9 Inferred relationship Some
An autosomal anomaly with characteristics of variable clinical features, most commonly including developmental delay, some degree of intellectual disability, facial dysmorphism, microcephaly, congenital heart anomalies and variable genital, limb and skeletal anomalies. Is a True Anomaly of chromosome pair 9 Inferred relationship Some
9p partial monosomy syndrome Is a False Anomaly of chromosome pair 9 Inferred relationship Some
Partial tetrasomy of chromosome 9 (disorder) Is a True Anomaly of chromosome pair 9 Inferred relationship Some
Complete trisomy 9 syndrome Is a False Anomaly of chromosome pair 9 Inferred relationship Some
9p partial trisomy syndrome Is a False Anomaly of chromosome pair 9 Inferred relationship Some
Deletion of part of chromosome 9 (disorder) Is a True Anomaly of chromosome pair 9 Inferred relationship Some
Partial trisomy of chromosome 9 (disorder) Is a False Anomaly of chromosome pair 9 Inferred relationship Some
Trisomy 9 (disorder) Is a True Anomaly of chromosome pair 9 Inferred relationship Some
Maternal uniparental disomy of chromosome 9 is a uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier. Is a True Anomaly of chromosome pair 9 Inferred relationship Some
Frontotemporal dementia due to VCP mutation (disorder) Due to True Anomaly of chromosome pair 9 Inferred relationship Some 3
Frontotemporal dementia due to C9orf72 mutation (disorder) Due to True Anomaly of chromosome pair 9 Inferred relationship Some 3

This concept is not in any reference sets

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