FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.4-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

51819009: 17p 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
86285011 17p partial trisomy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
789760011 17p partial trisomy syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
86285011 17p partial trisomy syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
86285011 17p partial trisomy syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
86285011 17p partial trisomy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
789760011 17p partial trisomy syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
789760011 17p partial trisomy syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
789760011 17p partial trisomy syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
789760011 17p partial trisomy syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4559031000241119 trisomie partielle 17p fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
4559031000241119 trisomie partielle 17p fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
17p partial trisomy syndrome Is a Trisomy and partial trisomy of autosome false Inferred relationship Existential restriction modifier (core metadata concept)
17p partial trisomy syndrome Is a Anomaly of chromosome pair 17 (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
17p partial trisomy syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
17p partial trisomy syndrome Associated morphology Trisomy (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept)
17p partial trisomy syndrome Finding site Chromosome pair 17 (cell structure) false Inferred relationship Existential restriction modifier (core metadata concept) 1
17p partial trisomy syndrome Associated morphology Alteration of chromosome structure false Inferred relationship Existential restriction modifier (core metadata concept)
17p partial trisomy syndrome Finding site Sex chromosome false Inferred relationship Existential restriction modifier (core metadata concept)
17p partial trisomy syndrome Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 1
17p partial trisomy syndrome Finding site Chromosome pair 17 (cell structure) false Inferred relationship Existential restriction modifier (core metadata concept) 1
17p partial trisomy syndrome Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept)
17p partial trisomy syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
17p partial trisomy syndrome Finding site Chromosome pair 17 (cell structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
17p partial trisomy syndrome Associated morphology Partial trisomy true Inferred relationship Existential restriction modifier (core metadata concept) 1
17p partial trisomy syndrome Is a Partial trisomy of chromosome 17 (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
Trisomy 17p is a rare chromosomal abnormality resulting from the duplication of the short arm of chromosome 17 and characterized by pre- and post-natal growth retardation, developmental delay, hypotonia, digital abnormalities, congenital heart defects, and distinctive facial features. Is a True 17p partial trisomy syndrome Inferred relationship Existential restriction modifier (core metadata concept)
17p13.3 microduplication syndrome (disorder) Is a True 17p partial trisomy syndrome Inferred relationship Existential restriction modifier (core metadata concept)
17p11.2 microduplication syndrome Is a True 17p partial trisomy syndrome Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

Back to Start