782694003: niet-distale monosomie 12q (aandoening)

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

\Disorder of foetus and/or newborn\Congenital disease (disorder)\...

\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Non-distal monosomy 12q

\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 long arm of chromosome 12 (disorder)\Non-distal monosomy 12q

\Anomaly of chromosome pair 12\Deletion of part of chromosome 12 (disorder)\Deletion of part of long arm of chromosome 12 (disorder)\Non-distal monosomy 12q

\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 long arm of chromosome 12 (disorder)\Non-distal monosomy 12q

\Anomaly of chromosome pair 12\Deletion of part of chromosome 12 (disorder)\Deletion of part of long arm of chromosome 12 (disorder)\Non-distal monosomy 12q

\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Non-distal monosomy 12q

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

Descriptions:

Id Description Lang Type Status Case? Module

3755245016 Non-distal deletion 12q en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3755246015 Non-distal monosomy 12q en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3755247012 Non-telomeric monosomy 12q en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3755248019 Non-distal monosomy 12q (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

7887511000146114 niet-distale monosomie 12q (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7887521000146116 niet-distale monosomie 12q nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

8033771000146116 niet-distale monosomie van lange arm van chromosoom 12 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

3755249010 A partial autosomal monosomy with characteristics of a variable combination of developmental delay, intellectual disability, ectodermal, genitourinary and minor cardiac anomalies and specific dysmorphic features (prominent forehead and low-set ears). Specific combination depends on the size and breakpoints of deleted regions. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Non-distal monosomy 12q	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Some	1
Non-distal monosomy 12q	Finding site	Chromosome pair 12	true	Inferred relationship	Some	1
Non-distal monosomy 12q	Associated morphology	Deletion of long arm	false	Inferred relationship	Some	2
Non-distal monosomy 12q	Is a	Deletion of part of long arm of chromosome 12 (disorder)	true	Inferred relationship	Some
Non-distal monosomy 12q	Occurrence	Congenital	true	Inferred relationship	Some	1
Non-distal monosomy 12q	Occurrence	Congenital	true	Inferred relationship	Some	2
Non-distal monosomy 12q	Finding site	Chromosome pair 12	false	Inferred relationship	Some	2
Non-distal monosomy 12q	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
Non-distal monosomy 12q	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Non-distal monosomy 12q	Finding site	Long arm of chromosome	true	Inferred relationship	Some	2
Non-distal monosomy 12q	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Some	2
Non-distal monosomy 12q	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2

Inbound Relationships

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This concept is not in any reference sets