719599008: 19q13.11 microdeletion syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\19q13.11 microdeletion syndrome
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\19q13.11 microdeletion syndrome
• \Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\19q13.11 microdeletion syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\19q13.11 microdeletion syndrome
• \Disease\Chromosomal disorder\Congenital chromosomal disease\Anomaly of chromosome pair\Monosomy and deletion from autosome\Deletion of part of autosome\Deletion of part of chromosome 19\Deletion of long arm of chromosome 19\19q13.11 microdeletion syndrome
• \Disease\Chromosomal disorder\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 19\Deletion of part of chromosome 19\Deletion of long arm of chromosome 19\19q13.11 microdeletion syndrome
• \Disease\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\Deletion of long arm of chromosome 19\19q13.11 microdeletion syndrome
• \Disease\Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 19\Deletion of part of chromosome 19\Deletion of long arm of chromosome 19\19q13.11 microdeletion syndrome
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\19q13.11 microdeletion syndrome

Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3317092018	19q13.11 microdeletion syndrome (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3317093011	19q13.11 microdeletion syndrome	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3317094017	Monosomy 19q13.11	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3317095016	The 19q13.11 microdeletion has characteristics of 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 dysplastic nails. To date, the syndrome has been identified in five patients. Haploinsufficiency of one or more genes in the 19q13.11 region could cause this microdeletion syndrome.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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