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29257000: 13q partial monosomy syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
48961019 13q partial monosomy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
48962014 Orbeli syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
48963016 13q minus syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
760131013 13q partial monosomy syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
2466671000052114 partiellt monosomi 13q-syndrom sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
13q partial monosomy syndrome (disorder) Is a Anomaly of chromosome pair 13 false Inferred relationship Some
13q partial monosomy syndrome (disorder) Associated morphology Monosomy false Inferred relationship Some 1
13q partial monosomy syndrome (disorder) Associated morphology Alteration of chromosome structure false Inferred relationship Some
13q partial monosomy syndrome (disorder) Finding site Chromosome pair 13 false Inferred relationship Some 1
13q partial monosomy syndrome (disorder) Occurrence Congenital false Inferred relationship Some
13q partial monosomy syndrome (disorder) Finding site Sex chromosome false Inferred relationship Some
13q partial monosomy syndrome (disorder) Associated morphology kongenital anomali false Inferred relationship Some 2
13q partial monosomy syndrome (disorder) Finding site Chromosome pair 13 false Inferred relationship Some 2
13q partial monosomy syndrome (disorder) Finding site Chromosome pair 13 false Inferred relationship Some 1
13q partial monosomy syndrome (disorder) Finding site Chromosome pair 13 false Inferred relationship Some 2
13q partial monosomy syndrome (disorder) Finding site Chromosome pair 13 false Inferred relationship Some 1
13q partial monosomy syndrome (disorder) Finding site Chromosome pair 13 false Inferred relationship Some 1
13q partial monosomy syndrome (disorder) Finding site Chromosome pair 13 false Inferred relationship Some 2
13q partial monosomy syndrome (disorder) Finding site Chromosome pair 13 false Inferred relationship Some 1
13q partial monosomy syndrome (disorder) Finding site Chromosome pair 13 false Inferred relationship Some 2
13q partial monosomy syndrome (disorder) Finding site Chromosome pair 13 false Inferred relationship Some 2
13q partial monosomy syndrome (disorder) Finding site Chromosome pair 13 false Inferred relationship Some 1
13q partial monosomy syndrome (disorder) Associated morphology kongenital anomali false Inferred relationship Some
13q partial monosomy syndrome (disorder) Associated morphology Monosomy false Inferred relationship Some
13q partial monosomy syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
13q partial monosomy syndrome (disorder) Finding site Chromosome pair 13 false Inferred relationship Some 1
13q partial monosomy syndrome (disorder) Is a Deletion of part of autosome false Inferred relationship Some
13q partial monosomy syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
13q partial monosomy syndrome (disorder) Finding site Chromosome pair 13 true Inferred relationship Some 2
13q partial monosomy syndrome (disorder) Associated morphology Deletion of long arm false Inferred relationship Some 1
13q partial monosomy syndrome (disorder) Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Some 2
13q partial monosomy syndrome (disorder) Is a Deletion of part of chromosome 13 (disorder) false Inferred relationship Some
13q partial monosomy syndrome (disorder) Is a Deletion of long arm of chromosome 13 true Inferred relationship Some
13q partial monosomy syndrome (disorder) Is a Distal deletion of chromosome 13 (disorder) true Inferred relationship Some
13q partial monosomy syndrome (disorder) Is a Congenital malformation true Inferred relationship Some
13q partial monosomy syndrome (disorder) Finding site Long arm of chromosome true Inferred relationship Some 1
13q partial monosomy syndrome (disorder) Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Some 1
13q partial monosomy syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
13q partial monosomy syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group
Monosomy 13q34 syndrome (disorder) Is a False 13q partial monosomy syndrome (disorder) Inferred relationship Some
Monosomy 13q14 syndrome Is a False 13q partial monosomy syndrome (disorder) Inferred relationship Some
13q12.3 microdeletion syndrome (disorder) Is a False 13q partial monosomy syndrome (disorder) Inferred relationship Some

This concept is not in any reference sets

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