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

890110004: 17q23.1-q23.2 duplication syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4008407010 17q23.1-q23.2 duplication syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4008408017 17q23.1-q23.2 duplication syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4008407010 17q23.1-q23.2 duplication syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4008408017 17q23.1-q23.2 duplication 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
17q23.1-q23.2 duplication syndrome Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
17q23.1-q23.2 duplication syndrome Is a 17q partial trisomy syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
17q23.1-q23.2 duplication syndrome Finding site Long arm of chromosome (cell structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
17q23.1-q23.2 duplication syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
17q23.1-q23.2 duplication syndrome Associated morphology Partial trisomy true Inferred relationship Existential restriction modifier (core metadata concept) 1
17q23.1-q23.2 duplication syndrome Finding site Chromosome pair 17 (cell structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
17q23.1-q23.2 duplication syndrome Associated morphology Partial trisomy true Inferred relationship Existential restriction modifier (core metadata concept) 2
17q23.1-q23.2 duplication syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
17q23.1-q23.2 duplication syndrome Is a Congenital malformation true Inferred relationship Existential restriction modifier (core metadata concept)
17q23.1-q23.2 duplication syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
17q23.1-q23.2 duplication syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
17q23.1-q23.2 duplication syndrome Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

Back to Start