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29257000: 13q partial monosomy syndrome (disorder)


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

Descriptions:

Id Description Lang Type Status Case? Module
48961019 13q partial monosomy syndrome en Synonym Active Entire term case insensitive SNOMED CT core module
48962014 Orbeli syndrome en Synonym Active Entire term case sensitive SNOMED CT core module
48963016 13q minus syndrome en Synonym Active Entire term case insensitive SNOMED CT core module
760131013 13q partial monosomy syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
13q partial monosomy syndrome Is a Anomaly of chromosome pair 13 false Inferred relationship Existential restriction modifier
13q partial monosomy syndrome Associated morphology Monosomy false Inferred relationship Existential restriction modifier 1
13q partial monosomy syndrome Associated morphology Alteration of chromosome structure false Inferred relationship Existential restriction modifier
13q partial monosomy syndrome Finding site Chromosome pair 13 false Inferred relationship Existential restriction modifier 1
13q partial monosomy syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier
13q partial monosomy syndrome Finding site Sex chromosome false Inferred relationship Existential restriction modifier
13q partial monosomy syndrome Associated morphology Congenital anomaly false Inferred relationship Existential restriction modifier 2
13q partial monosomy syndrome Finding site Chromosome pair 13 false Inferred relationship Existential restriction modifier 2
13q partial monosomy syndrome Finding site Chromosome pair 13 false Inferred relationship Existential restriction modifier 1
13q partial monosomy syndrome Finding site Chromosome pair 13 false Inferred relationship Existential restriction modifier 2
13q partial monosomy syndrome Finding site Chromosome pair 13 false Inferred relationship Existential restriction modifier 1
13q partial monosomy syndrome Finding site Chromosome pair 13 false Inferred relationship Existential restriction modifier 1
13q partial monosomy syndrome Finding site Chromosome pair 13 false Inferred relationship Existential restriction modifier 2
13q partial monosomy syndrome Finding site Chromosome pair 13 false Inferred relationship Existential restriction modifier 1
13q partial monosomy syndrome Finding site Chromosome pair 13 false Inferred relationship Existential restriction modifier 2
13q partial monosomy syndrome Finding site Chromosome pair 13 false Inferred relationship Existential restriction modifier 2
13q partial monosomy syndrome Finding site Chromosome pair 13 false Inferred relationship Existential restriction modifier 1
13q partial monosomy syndrome Associated morphology Congenital anomaly false Inferred relationship Existential restriction modifier
13q partial monosomy syndrome Associated morphology Monosomy false Inferred relationship Existential restriction modifier
13q partial monosomy syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 1
13q partial monosomy syndrome Finding site Chromosome pair 13 false Inferred relationship Existential restriction modifier 1
13q partial monosomy syndrome Is a Deletion of part of autosome false Inferred relationship Existential restriction modifier
13q partial monosomy syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 2
13q partial monosomy syndrome Finding site Chromosome pair 13 true Inferred relationship Existential restriction modifier 2
13q partial monosomy syndrome Associated morphology Deletion of long arm false Inferred relationship Existential restriction modifier 1
13q partial monosomy syndrome Associated morphology Partial monosomy true Inferred relationship Existential restriction modifier 2
13q partial monosomy syndrome Is a Deletion of part of chromosome 13 false Inferred relationship Existential restriction modifier
13q partial monosomy syndrome Is a Deletion of long arm of chromosome 13 true Inferred relationship Existential restriction modifier
13q partial monosomy syndrome Is a Distal deletion of chromosome 13 true Inferred relationship Existential restriction modifier
13q partial monosomy syndrome Is a Congenital malformation true Inferred relationship Existential restriction modifier
13q partial monosomy syndrome Finding site Long arm of chromosome true Inferred relationship Existential restriction modifier 1
13q partial monosomy syndrome Associated morphology Partial monosomy true Inferred relationship Existential restriction modifier 1
13q partial monosomy syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 1
13q partial monosomy syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 2

Inbound Relationships Type Active Source Characteristic Refinability Group
Monosomy 13q34 syndrome Is a False 13q partial monosomy syndrome Inferred relationship Existential restriction modifier
Monosomy 13q14 syndrome Is a False 13q partial monosomy syndrome Inferred relationship Existential restriction modifier
13q12.3 microdeletion syndrome Is a False 13q partial monosomy syndrome Inferred relationship Existential restriction modifier

This concept is not in any reference sets

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