726393006: Deletion of long arm of chromosome 19 (disorder)

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

\Fetal and/or neonatal disorder\Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\...

\Monosomy and deletion from autosome\Deletion of part of autosome\Deletion of part of chromosome 19 (disorder)\Deletion of long arm of chromosome 19 (disorder)

\Anomaly of chromosome pair 19\Deletion of part of chromosome 19 (disorder)\Deletion of long arm of chromosome 19 (disorder)

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

\Monosomy and deletion from autosome\Deletion of part of autosome\Deletion of part of chromosome 19 (disorder)\Deletion of long arm of chromosome 19 (disorder)

\Anomaly of chromosome pair 19\Deletion of part of chromosome 19 (disorder)\Deletion of long arm of chromosome 19 (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3463924012 Deletion of long arm of chromosome 19 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3463925013 Deletion of long arm of chromosome 19 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5866071000241111 délétion du bras long 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
Deletion of long arm of chromosome 19 (disorder)	Is a	Deletion of part of chromosome 19 (disorder)	true	Inferred relationship	Some
Deletion of long arm of chromosome 19 (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Deletion of long arm of chromosome 19 (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	3
Deletion of long arm of chromosome 19 (disorder)	Associated morphology	Deletion of long arm	true	Inferred relationship	Some	2
Deletion of long arm of chromosome 19 (disorder)	Finding site	Long arm of chromosome	false	Inferred relationship	Some	2
Deletion of long arm of chromosome 19 (disorder)	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Some	3
Deletion of long arm of chromosome 19 (disorder)	Finding site	Chromosome pair 19	true	Inferred relationship	Some	3
Deletion of long arm of chromosome 19 (disorder)	Finding site	Chromosome pair 19	true	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
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	True	Deletion of long arm of chromosome 19 (disorder)	Inferred relationship	Some

This concept is not in any reference sets