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66933007: Chromosome pair 14 (cell structure)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
111173016 Chromosome pair 14 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
1204229013 Chromosome pair 14 (cell structure) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
111173016 Chromosome pair 14 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
111173016 Chromosome pair 14 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
806601015 Chromosome pair 14 (body structure) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
1204229013 Chromosome pair 14 (cell structure) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
1204229013 Chromosome pair 14 (cell structure) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Chromosome pair 14 (cell structure) Is a Chromosome true Inferred relationship Existential restriction modifier (core metadata concept)
Chromosome pair 14 (cell structure) partie de Nucleus false Additional relationship (core metadata concept) Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
14q partial distal trisomy syndrome (disorder) Finding site False Chromosome pair 14 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Complete trisomy 14 syndrome Finding site False Chromosome pair 14 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Anomaly of chromosome pair 14 Finding site False Chromosome pair 14 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
14q partial trisomy (disorder) Finding site False Chromosome pair 14 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
14q partial proximal trisomy syndrome (disorder) Finding site False Chromosome pair 14 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Complete trisomy 14 syndrome Finding site False Chromosome pair 14 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
14q partial trisomy (disorder) Finding site False Chromosome pair 14 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
14q partial distal trisomy syndrome (disorder) Finding site False Chromosome pair 14 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
14q partial proximal trisomy syndrome (disorder) Finding site False Chromosome pair 14 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Anomaly of chromosome pair 14 Finding site False Chromosome pair 14 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
14q partial distal trisomy syndrome (disorder) Finding site False Chromosome pair 14 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Complete trisomy 14 syndrome Finding site False Chromosome pair 14 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Anomaly of chromosome pair 14 Finding site True Chromosome pair 14 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
14q partial proximal trisomy syndrome (disorder) Finding site False Chromosome pair 14 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
14q partial trisomy (disorder) Finding site True Chromosome pair 14 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
14q11.2 microdeletion syndrome (disorder) Finding site False Chromosome pair 14 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 4
14q11.2 microdeletion syndrome (disorder) Finding site False Chromosome pair 14 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 3
14q12 microdeletion syndrome (disorder) Finding site True Chromosome pair 14 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
14q12 microdeletion syndrome (disorder) Finding site False Chromosome pair 14 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 3
Deletion of part of chromosome 14 Finding site True Chromosome pair 14 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Partial trisomy of chromosome 14 Finding site True Chromosome pair 14 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Mosaic trisomy 14 syndrome Finding site True Chromosome pair 14 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
Mosaic trisomy 14 syndrome Finding site True Chromosome pair 14 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal monosomy 14q syndrome (disorder) Finding site True Chromosome pair 14 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
14q11.2 microduplication syndrome (disorder) Finding site False Chromosome pair 14 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
14q22q23 microdeletion syndrome Finding site False Chromosome pair 14 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 4
14q11.2 microdeletion syndrome (disorder) Finding site True Chromosome pair 14 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
14q11.2 microdeletion syndrome (disorder) Finding site False Chromosome pair 14 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
14q24.1q24.3 microdeletion syndrome (disorder) Finding site True Chromosome pair 14 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 3
14q24.1q24.3 microdeletion syndrome (disorder) Finding site False Chromosome pair 14 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
14q32 deletion syndrome (disorder) Finding site True Chromosome pair 14 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
14q32 deletion syndrome (disorder) Finding site False Chromosome pair 14 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
Distal deletion of chromosome 14 (disorder) Finding site True Chromosome pair 14 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal duplication of chromosome 14 (disorder) Finding site True Chromosome pair 14 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Paternal 14q32.2 microdeletion (disorder) Finding site True Chromosome pair 14 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Medial duplication of chromosome 14 (disorder) Finding site True Chromosome pair 14 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Maternal uniparental disomy of chromosome 14 Finding site True Chromosome pair 14 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Medial deletion of chromosome 14 Finding site True Chromosome pair 14 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Paternal uniparental disomy of chromosome 14 Finding site True Chromosome pair 14 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Proximal deletion of chromosome 14 Finding site True Chromosome pair 14 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Proximal duplication of chromosome 14 (disorder) Finding site True Chromosome pair 14 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Disease with characteristics of intellectual deficit, retinal and skin pigmentation disorders, seizures, and dysmorphic features, including flat occiput, epicanthal folds, downward slanting eyes, flat nasal bridge, upturned nostrils, short neck and large low set ears. Finding site True Chromosome pair 14 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
14q partial distal trisomy syndrome (disorder) Finding site True Chromosome pair 14 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
14q11.2 microduplication syndrome (disorder) Finding site True Chromosome pair 14 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
Partial deletion of long arm of chromosome 14 (disorder) Finding site True Chromosome pair 14 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
14q22q23 microdeletion syndrome Finding site True Chromosome pair 14 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
14q partial proximal trisomy syndrome (disorder) Finding site True Chromosome pair 14 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
14q32 duplication syndrome (disorder) Finding site True Chromosome pair 14 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 2

This concept is not in any reference sets

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