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228050004: 21q partial trisomy (disorder)


Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4555283012 21q partial trisomy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4555284018 21q partial trisomy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
2466691000052113 partiellt trisomi 21q-syndrom sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)


1 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
21q partial trisomy (disorder) Is a Anomaly of chromosome pair 21 false Inferred relationship Some
21q partial trisomy (disorder) Occurrence Congenital false Inferred relationship Some
21q partial trisomy (disorder) Finding site Chromosome pair 21 false Inferred relationship Some 1
21q partial trisomy (disorder) Finding site Sex chromosome false Inferred relationship Some
21q partial trisomy (disorder) Associated morphology Alteration of chromosome structure false Inferred relationship Some
21q partial trisomy (disorder) Associated morphology kongenital anomali false Inferred relationship Some 1
21q partial trisomy (disorder) Associated morphology kongenital anomali false Inferred relationship Some
21q partial trisomy (disorder) Finding site Chromosome pair 21 false Inferred relationship Some 1
21q partial trisomy (disorder) Occurrence Congenital true Inferred relationship Some 1
21q partial trisomy (disorder) Associated morphology Cellular AND/OR subcellular abnormality false Inferred relationship Some 1
21q partial trisomy (disorder) Finding site Chromosome pair 21 false Inferred relationship Some 1
21q partial trisomy (disorder) Occurrence Congenital true Inferred relationship Some 2
21q partial trisomy (disorder) Is a Partial trisomy of chromosome 21 true Inferred relationship Some
21q partial trisomy (disorder) Finding site Chromosome pair 21 true Inferred relationship Some 2
21q partial trisomy (disorder) Finding site Long arm of chromosome true Inferred relationship Some 1
21q partial trisomy (disorder) Associated morphology Partial trisomy true Inferred relationship Some 1
21q partial trisomy (disorder) Associated morphology Partial trisomy true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group
21q partial distal trisomy (disorder) Is a True 21q partial trisomy (disorder) Inferred relationship Some

This concept is not in any reference sets

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