FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.13  |  FHIR Version n/a  User: [n/a]

48812004: 17q 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
786422019 17q partial trisomy syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
81340012 17q partial trisomy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core


8 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
17q partial trisomy syndrome (disorder) est un(e) (attribut) Trisomy and partial trisomy of autosome false Inferred relationship Some
17q partial trisomy syndrome (disorder) est un(e) (attribut) anomalie du chromosome 17 (trouble) false Inferred relationship Some
17q partial trisomy syndrome (disorder) morphologie associée (attribut) Congenital anomaly false Inferred relationship Some 1
17q partial trisomy syndrome (disorder) morphologie associée (attribut) Congenital anomaly false Inferred relationship Some
17q partial trisomy syndrome (disorder) localisation d'une constatation (attribut) Chromosome pair 17 (cell structure) false Inferred relationship Some 1
17q partial trisomy syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 1
17q partial trisomy syndrome (disorder) localisation d'une constatation (attribut) Chromosome pair 17 (cell structure) true Inferred relationship Some 1
17q partial trisomy syndrome (disorder) morphologie associée (attribut) Partial trisomy true Inferred relationship Some 1
17q partial trisomy syndrome (disorder) est un(e) (attribut) Partial trisomy of chromosome 17 (disorder) true Inferred relationship Some
17q partial trisomy syndrome (disorder) localisation d'une constatation (attribut) Sex chromosome (cell structure) false Inferred relationship Some
17q partial trisomy syndrome (disorder) localisation d'une constatation (attribut) Chromosome pair 17 (cell structure) false Inferred relationship Some 1
17q partial trisomy syndrome (disorder) morphologie associée (attribut) Alteration of chromosome structure false Inferred relationship Some
17q partial trisomy syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some
17q partial trisomy syndrome (disorder) morphologie associée (attribut) Trisomy false Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
17q23.1-q23.2 duplication syndrome est un(e) (attribut) True 17q partial trisomy syndrome (disorder) Inferred relationship Some
Proximal duplication of long arm of chromosome 17 (disorder) est un(e) (attribut) True 17q partial trisomy syndrome (disorder) Inferred relationship Some
Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome (disorder) est un(e) (attribut) True 17q partial trisomy syndrome (disorder) Inferred relationship Some
17q21.31 microduplication syndrome (disorder) est un(e) (attribut) True 17q partial trisomy syndrome (disorder) Inferred relationship Some
17q11.2 microduplication syndrome (disorder) est un(e) (attribut) True 17q partial trisomy syndrome (disorder) Inferred relationship Some
17q12 microduplication syndrome est un(e) (attribut) True 17q partial trisomy syndrome (disorder) Inferred relationship Some
Distal trisomy 17q est un(e) (attribut) True 17q partial trisomy syndrome (disorder) Inferred relationship Some

Reference Sets

Description inactivation indicator reference set

Back to Start