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5982001: 2q partial trisomy 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
10946013 2q partial trisomy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
798705014 2q partial trisomy syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core


5 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
2q partial trisomy syndrome est un(e) (attribut) anomalie du chromosome 2 (trouble) false Inferred relationship Some
2q partial trisomy syndrome est un(e) (attribut) Trisomy and partial trisomy of autosome false Inferred relationship Some
2q partial trisomy syndrome morphologie associée (attribut) Congenital anomaly false Inferred relationship Some 1
2q partial trisomy syndrome localisation d'une constatation (attribut) Chromosome pair 2 (cell structure) false Inferred relationship Some 1
2q partial trisomy syndrome morphologie associée (attribut) Congenital anomaly false Inferred relationship Some
2q partial trisomy syndrome survenue (attribut) congénital true Inferred relationship Some 1
2q partial trisomy syndrome localisation d'une constatation (attribut) Chromosome pair 2 (cell structure) true Inferred relationship Some 1
2q partial trisomy syndrome morphologie associée (attribut) Partial trisomy true Inferred relationship Some 1
2q partial trisomy syndrome est un(e) (attribut) Partial trisomy of chromosome 2 (disorder) true Inferred relationship Some
2q partial trisomy syndrome localisation d'une constatation (attribut) Chromosome pair 2 (cell structure) false Inferred relationship Some 1
2q partial trisomy syndrome localisation d'une constatation (attribut) Sex chromosome (cell structure) false Inferred relationship Some
2q partial trisomy syndrome survenue (attribut) congénital false Inferred relationship Some
2q partial trisomy syndrome morphologie associée (attribut) Alteration of chromosome structure false Inferred relationship Some
2q partial trisomy syndrome morphologie associée (attribut) Trisomy false Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
Syndactyly, nystagmus syndrome due to 2q31.1 microduplication est un(e) (attribut) True 2q partial trisomy syndrome Inferred relationship Some
Medial duplication of long arm of chromosome 2 est un(e) (attribut) True 2q partial trisomy syndrome Inferred relationship Some
Proximal duplication of long arm of chromosome 2 est un(e) (attribut) True 2q partial trisomy syndrome Inferred relationship Some
Distal trisomy 2q est un(e) (attribut) True 2q partial trisomy syndrome Inferred relationship Some
2q23.1 microduplication syndrome (disorder) est un(e) (attribut) True 2q partial trisomy 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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