89959003: Chromosome pair 19 (cell structure)

SNOMED CT Concept\Body structure\Anatomical or acquired body structure (body structure)\Anatomical structure\Cell\Subcellular structure\Chromosome structure (cell structure)\Chromosome\Chromosome pair 19

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

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Chromosome pair 19	Is a	Chromosome	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Chromosome pair 19	partie de	Nucleus	false	Additional relationship (core metadata concept)	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
19q partial trisomy syndrome	Finding site	False	Chromosome pair 19	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Anomaly of chromosome pair 19	Finding site	False	Chromosome pair 19	Inferred relationship	Existential restriction modifier (core metadata concept)	1
19q partial trisomy syndrome	Finding site	False	Chromosome pair 19	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Anomaly of chromosome pair 19	Finding site	False	Chromosome pair 19	Inferred relationship	Existential restriction modifier (core metadata concept)	1
19q partial trisomy syndrome	Finding site	True	Chromosome pair 19	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Anomaly of chromosome pair 19	Finding site	True	Chromosome pair 19	Inferred relationship	Existential restriction modifier (core metadata concept)	1
19p13.12 microdeletion syndrome is a newly described syndrome characterized by moderate to severe developmental delay, language delay, bilateral sensorineural and/or conductive hearing loss and facial dysmorphism.	Finding site	True	Chromosome pair 19	Inferred relationship	Existential restriction modifier (core metadata concept)	2
19p13.12 microdeletion syndrome is a newly described syndrome characterized by moderate to severe developmental delay, language delay, bilateral sensorineural and/or conductive hearing loss and facial dysmorphism.	Finding site	False	Chromosome pair 19	Inferred relationship	Existential restriction modifier (core metadata concept)	3
The 19q13.11 microdeletion is characterized by several major features including pre and postnatal growth retardation, slender habitus, severe postnatal feeding difficulties, microcephaly, intellectual deficit with speech disturbance, hypospadias and ectodermal dysplasia presented by scalp aplasia, thin and sparse hair, eyebrows and eyelashes, thin and dry skin and dysplasic nails.	Finding site	True	Chromosome pair 19	Inferred relationship	Existential restriction modifier (core metadata concept)	2
The 19q13.11 microdeletion is characterized by several major features including pre and postnatal growth retardation, slender habitus, severe postnatal feeding difficulties, microcephaly, intellectual deficit with speech disturbance, hypospadias and ectodermal dysplasia presented by scalp aplasia, thin and sparse hair, eyebrows and eyelashes, thin and dry skin and dysplasic nails.	Finding site	False	Chromosome pair 19	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Deletion of part of chromosome 19 (disorder)	Finding site	True	Chromosome pair 19	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Deletion of short arm of chromosome 19 (disorder)	Finding site	True	Chromosome pair 19	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Deletion of long arm of chromosome 19	Finding site	True	Chromosome pair 19	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Partial trisomy of chromosome 19 (disorder)	Finding site	True	Chromosome pair 19	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Partial trisomy of short arm of chromosome 19 (disorder)	Finding site	True	Chromosome pair 19	Inferred relationship	Existential restriction modifier (core metadata concept)	3
19p13.13 microdeletion syndrome (disorder)	Finding site	True	Chromosome pair 19	Inferred relationship	Existential restriction modifier (core metadata concept)	2
19p13.13 microdeletion syndrome (disorder)	Finding site	True	Chromosome pair 19	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Ring chromosome 19 syndrome	Finding site	True	Chromosome pair 19	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Distal trisomy 19q syndrome (disorder)	Finding site	True	Chromosome pair 19	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Distal monosomy 19p13.3	Finding site	True	Chromosome pair 19	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Deletion of long arm of chromosome 19	Finding site	True	Chromosome pair 19	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Deletion of short arm of chromosome 19 (disorder)	Finding site	True	Chromosome pair 19	Inferred relationship	Existential restriction modifier (core metadata concept)	2
19p13.12 microdeletion syndrome is a newly described syndrome characterized by moderate to severe developmental delay, language delay, bilateral sensorineural and/or conductive hearing loss and facial dysmorphism.	Finding site	True	Chromosome pair 19	Inferred relationship	Existential restriction modifier (core metadata concept)	1
The 19q13.11 microdeletion is characterized by several major features including pre and postnatal growth retardation, slender habitus, severe postnatal feeding difficulties, microcephaly, intellectual deficit with speech disturbance, hypospadias and ectodermal dysplasia presented by scalp aplasia, thin and sparse hair, eyebrows and eyelashes, thin and dry skin and dysplasic nails.	Finding site	True	Chromosome pair 19	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Distal monosomy 19p13.3	Finding site	True	Chromosome pair 19	Inferred relationship	Existential restriction modifier (core metadata concept)	2
19p13.3 microduplication syndrome (disorder)	Finding site	True	Chromosome pair 19	Inferred relationship	Existential restriction modifier (core metadata concept)	2

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
149116014	Chromosome pair 19	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1205249012	Chromosome pair 19 (cell structure)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
149116014	Chromosome pair 19	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
149116014	Chromosome pair 19	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
832961015	Chromosome pair 19 (body structure)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1205249012	Chromosome pair 19 (cell structure)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1205249012	Chromosome pair 19 (cell structure)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core