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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
9456010 Anomaly of chromosome pair 9 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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
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 Existential restriction modifier (core metadata concept)
Anomaly of chromosome pair 9 Finding site Sex chromosome false Inferred relationship Existential restriction modifier (core metadata concept)
Anomaly of chromosome pair 9 Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
Anomaly of chromosome pair 9 Finding site Chromosome pair 9 false Inferred relationship Existential restriction modifier (core metadata concept) 1
Anomaly of chromosome pair 9 Associated morphology Alteration of chromosome structure false Inferred relationship Existential restriction modifier (core metadata concept)
Anomaly of chromosome pair 9 Is a Anomaly of chromosome pair true Inferred relationship Existential restriction modifier (core metadata concept)
Anomaly of chromosome pair 9 Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 1
Anomaly of chromosome pair 9 Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept)
Anomaly of chromosome pair 9 Finding site Chromosome pair 9 false Inferred relationship Existential restriction modifier (core metadata concept) 1
Anomaly of chromosome pair 9 Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Anomaly of chromosome pair 9 Finding site Chromosome pair 9 true Inferred relationship Existential restriction modifier (core metadata concept) 1
Anomaly of chromosome pair 9 Associated morphology Cellular AND/OR subcellular abnormality true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group
9q partial trisomy syndrome Is a False Anomaly of chromosome pair 9 Inferred relationship Existential restriction modifier (core metadata concept)
9q partial monosomy syndrome (disorder) Is a False Anomaly of chromosome pair 9 Inferred relationship Existential restriction modifier (core metadata concept)
Ring chromosome 9 syndrome Is a True Anomaly of chromosome pair 9 Inferred relationship Existential restriction modifier (core metadata concept)
9p partial monosomy syndrome Is a False Anomaly of chromosome pair 9 Inferred relationship Existential restriction modifier (core metadata concept)
Partial tetrasomy of chromosome 9 (disorder) Is a True Anomaly of chromosome pair 9 Inferred relationship Existential restriction modifier (core metadata concept)
Complete trisomy 9 syndrome Is a False Anomaly of chromosome pair 9 Inferred relationship Existential restriction modifier (core metadata concept)
9p partial trisomy syndrome Is a False Anomaly of chromosome pair 9 Inferred relationship Existential restriction modifier (core metadata concept)
Deletion of part of chromosome 9 (disorder) Is a True Anomaly of chromosome pair 9 Inferred relationship Existential restriction modifier (core metadata concept)
Partial trisomy of chromosome 9 (disorder) Is a False Anomaly of chromosome pair 9 Inferred relationship Existential restriction modifier (core metadata concept)
Trisomy 9 (disorder) Is a True Anomaly of chromosome pair 9 Inferred relationship Existential restriction modifier (core metadata concept)
Maternal uniparental disomy of chromosome 9 Is a True Anomaly of chromosome pair 9 Inferred relationship Existential restriction modifier (core metadata concept)
Frontotemporal dementia due to VCP mutation (disorder) Due to True Anomaly of chromosome pair 9 Inferred relationship Existential restriction modifier (core metadata concept) 3
Frontotemporal dementia due to C9orf72 mutation (disorder) Due to True Anomaly of chromosome pair 9 Inferred relationship Existential restriction modifier (core metadata concept) 3

This concept is not in any reference sets

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