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699307007: Chromosome 16p11.2 deletion syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2014. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
2983646018 Chromosome 16p11.2 deletion syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
2983663019 16p11.2 deletion syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
2983684012 Chromosome 16p11.2 deletion 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
Chromosome 16p11.2 deletion syndrome est un(e) (attribut) Congenital malformation true Inferred relationship Some
Chromosome 16p11.2 deletion syndrome est un(e) (attribut) Deletion of part of short arm of chromosome 16 (disorder) true Inferred relationship Some
Chromosome 16p11.2 deletion syndrome localisation d'une constatation (attribut) Short arm of chromosome (cell structure) true Inferred relationship Some 1
Chromosome 16p11.2 deletion syndrome morphologie associée (attribut) Partial monosomy (morphologic abnormality) true Inferred relationship Some 1
Chromosome 16p11.2 deletion syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Chromosome 16p11.2 deletion syndrome survenue (attribut) congénital true Inferred relationship Some 2
Chromosome 16p11.2 deletion syndrome localisation d'une constatation (attribut) Chromosome pair 16 (cell structure) true Inferred relationship Some 2
Chromosome 16p11.2 deletion syndrome morphologie associée (attribut) Partial monosomy (morphologic abnormality) true Inferred relationship Some 2
Chromosome 16p11.2 deletion syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Chromosome 16p11.2 deletion syndrome est un(e) (attribut) anomalie du chromosome 16 (trouble) false Inferred relationship Some
Chromosome 16p11.2 deletion syndrome survenue (attribut) congénital false Inferred relationship Some
Chromosome 16p11.2 deletion syndrome morphologie associée (attribut) Congenital anomaly false Inferred relationship Some
Chromosome 16p11.2 deletion syndrome survenue (attribut) congénital true Inferred relationship Some 1
Chromosome 16p11.2 deletion syndrome morphologie associée (attribut) Cellular AND/OR subcellular abnormality false Inferred relationship Some 1
Chromosome 16p11.2 deletion syndrome localisation d'une constatation (attribut) Chromosome pair 16 (cell structure) false Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
syndrome de microdélétion 16p11.2 proximale est un(e) (attribut) False Chromosome 16p11.2 deletion syndrome Inferred relationship Some

This concept is not in any reference sets

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