79656000: Anomaly of chromosome pair 19 (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Disorder of foetus and/or newborn\Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 19

\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 19

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

132153018 Anomaly of chromosome pair 19 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

820730015 Anomaly of chromosome pair 19 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

132153018 Anomaly of chromosome pair 19 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

132153018 Anomaly of chromosome pair 19 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

820730015 Anomaly of chromosome pair 19 (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

820730015 Anomaly of chromosome pair 19 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

922911000172113 anomalie du chromosome 19 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

922911000172113 anomalie du chromosome 19 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Anomaly of chromosome pair 19	Is a	Anomaly of sex chromosome	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Anomaly of chromosome pair 19	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Anomaly of chromosome pair 19	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Anomaly of chromosome pair 19	Finding site	Sex chromosome	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Anomaly of chromosome pair 19	Finding site	Chromosome pair 19	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Anomaly of chromosome pair 19	Is a	Anomaly of chromosome pair	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Anomaly of chromosome pair 19	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Anomaly of chromosome pair 19	Finding site	Chromosome pair 19	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Anomaly of chromosome pair 19	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Anomaly of chromosome pair 19	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Anomaly of chromosome pair 19	Associated morphology	Cellular AND/OR subcellular abnormality	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Anomaly of chromosome pair 19	Finding site	Chromosome pair 19	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
19q partial trisomy syndrome	Is a	False	Anomaly of chromosome pair 19	Inferred relationship	Existential restriction modifier (core metadata concept)
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.	Is a	False	Anomaly of chromosome pair 19	Inferred relationship	Existential restriction modifier (core metadata concept)
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.	Is a	False	Anomaly of chromosome pair 19	Inferred relationship	Existential restriction modifier (core metadata concept)
Deletion of part of chromosome 19 (disorder)	Is a	True	Anomaly of chromosome pair 19	Inferred relationship	Existential restriction modifier (core metadata concept)
Partial trisomy of chromosome 19 (disorder)	Is a	True	Anomaly of chromosome pair 19	Inferred relationship	Existential restriction modifier (core metadata concept)
Ring chromosome 19 syndrome	Is a	True	Anomaly of chromosome pair 19	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets