770902008: Distal monosomy 12p (disorder)

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Disorder of foetus and/or newborn\Congenital disease (disorder)\...
• \Congenital malformation\Distal monosomy 12p
• \Congenital chromosomal disease\Anomaly of chromosome pair\...
• \Monosomy and deletion from autosome (disorder)\Deletion of part of autosome\Deletion of part of chromosome 12 (disorder)\Deletion of part of short arm of chromosome 12 (disorder)\Distal monosomy 12p
• \Anomaly of chromosome pair 12\Deletion of part of chromosome 12 (disorder)\Deletion of part of short arm of chromosome 12 (disorder)\Distal monosomy 12p
• \Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\...
• \Monosomy and deletion from autosome (disorder)\Deletion of part of autosome\Deletion of part of chromosome 12 (disorder)\Deletion of part of short arm of chromosome 12 (disorder)\Distal monosomy 12p
• \Anomaly of chromosome pair 12\Deletion of part of chromosome 12 (disorder)\Deletion of part of short arm of chromosome 12 (disorder)\Distal monosomy 12p
• \Developmental disorder\Congenital malformation\Distal monosomy 12p

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3703346014	Distal monosomy 12p	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3703347017	Distal deletion 12p	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3703348010	Distal monosomy 12p (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3703349019	12p13.33 microdeletion syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5404953010	A rare partial autosomal monosomy characterized by language development delay with childhood apraxia of speech, mild intellectual disability, behaviorial abnormalities (autistic spectrum disorder, attention deficit hyperactivity disorder, anxiety) and mildly dysmorphic nonspecific features. Additional clinical features may include muscular hypotonia and joint laxity, hernias and microcephaly.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404954016	A rare partial autosomal monosomy characterised by language development delay with childhood apraxia of speech, mild intellectual disability, behaviorial abnormalities (autistic spectrum disorder, attention deficit hyperactivity disorder, anxiety) and mildly dysmorphic nonspecific features. Additional clinical features may include muscular hypotonia and joint laxity, hernias and microcephaly.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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