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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


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
13q partial monosomy syndrome est un(e) (attribut) Deletion of long arm of chromosome 13 true Inferred relationship Some
13q partial monosomy syndrome est un(e) (attribut) Distal deletion of chromosome 13 (disorder) true Inferred relationship Some
13q partial monosomy syndrome est un(e) (attribut) Congenital malformation true Inferred relationship Some
13q partial monosomy syndrome localisation d'une constatation (attribut) Long arm of chromosome (cell structure) true Inferred relationship Some 1
13q partial monosomy syndrome morphologie associée (attribut) Partial monosomy (morphologic abnormality) true Inferred relationship Some 1
13q partial monosomy syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
13q partial monosomy syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
13q partial monosomy syndrome est un(e) (attribut) Anomaly of chromosome pair 13 false Inferred relationship Some
13q partial monosomy syndrome morphologie associée (attribut) Congenital anomaly false Inferred relationship Some 2
13q partial monosomy syndrome localisation d'une constatation (attribut) Chromosome pair 13 (cell structure) false Inferred relationship Some 2
13q partial monosomy syndrome localisation d'une constatation (attribut) Chromosome pair 13 (cell structure) false Inferred relationship Some 1
13q partial monosomy syndrome localisation d'une constatation (attribut) Chromosome pair 13 (cell structure) false Inferred relationship Some 2
13q partial monosomy syndrome localisation d'une constatation (attribut) Chromosome pair 13 (cell structure) false Inferred relationship Some 1
13q partial monosomy syndrome localisation d'une constatation (attribut) Chromosome pair 13 (cell structure) false Inferred relationship Some 1
13q partial monosomy syndrome localisation d'une constatation (attribut) Chromosome pair 13 (cell structure) false Inferred relationship Some 2
13q partial monosomy syndrome localisation d'une constatation (attribut) Chromosome pair 13 (cell structure) false Inferred relationship Some 1
13q partial monosomy syndrome localisation d'une constatation (attribut) Chromosome pair 13 (cell structure) false Inferred relationship Some 2
13q partial monosomy syndrome localisation d'une constatation (attribut) Chromosome pair 13 (cell structure) false Inferred relationship Some 2
13q partial monosomy syndrome localisation d'une constatation (attribut) Chromosome pair 13 (cell structure) false Inferred relationship Some 1
13q partial monosomy syndrome morphologie associée (attribut) Congenital anomaly false Inferred relationship Some
13q partial monosomy syndrome morphologie associée (attribut) Monosomy false Inferred relationship Some
13q partial monosomy syndrome survenue (attribut) congénital true Inferred relationship Some 1
13q partial monosomy syndrome localisation d'une constatation (attribut) Chromosome pair 13 (cell structure) false Inferred relationship Some 1
13q partial monosomy syndrome est un(e) (attribut) Deletion of part of autosome false Inferred relationship Some
13q partial monosomy syndrome survenue (attribut) congénital true Inferred relationship Some 2
13q partial monosomy syndrome localisation d'une constatation (attribut) Chromosome pair 13 (cell structure) true Inferred relationship Some 2
13q partial monosomy syndrome morphologie associée (attribut) Deletion of long arm false Inferred relationship Some 1
13q partial monosomy syndrome morphologie associée (attribut) Partial monosomy (morphologic abnormality) true Inferred relationship Some 2
13q partial monosomy syndrome est un(e) (attribut) Deletion of part of chromosome 13 (disorder) false Inferred relationship Some
13q partial monosomy syndrome morphologie associée (attribut) Monosomy false Inferred relationship Some 1
13q partial monosomy syndrome morphologie associée (attribut) Alteration of chromosome structure false Inferred relationship Some
13q partial monosomy syndrome localisation d'une constatation (attribut) Chromosome pair 13 (cell structure) false Inferred relationship Some 1
13q partial monosomy syndrome survenue (attribut) congénital false Inferred relationship Some
13q partial monosomy syndrome localisation d'une constatation (attribut) Sex chromosome (cell structure) false Inferred relationship Some

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

Reference Sets

Client's clinical problems, conditions, diagnoses, symptoms, findings, complaints reference set (foundation metadata concept)

Most commonly used clinical problems, conditions, diagnoses, symptoms, findings and complaints, as interpreted by the provider reference set (foundation metadata concept)

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