FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 4.0.1  |  FHIR Version n/a  User: [n/a]

880093002: 17q11 deletion syndrome (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module
3994484010 17q11 deletion syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
3994485011 17q11 deletion syndrome en Synonym Active Entire term case insensitive SNOMED CT core module
3994486012 Neurofibromatosis type 1 microdeletion syndrome en Synonym Active Entire term case insensitive SNOMED CT core module
3994487015 Monosomy 17q11 en Synonym Active Entire term case insensitive SNOMED CT core module
4008406018 Chromosome 17q11.2 deletion syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
17q11 deletion syndrome Is a Neurofibromatosis type 1 true Inferred relationship Existential restriction modifier
17q11 deletion syndrome Is a Deletion of part of long arm of chromosome 17 true Inferred relationship Existential restriction modifier
17q11 deletion syndrome Associated morphology Partial monosomy true Inferred relationship Existential restriction modifier 1
17q11 deletion syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 1
17q11 deletion syndrome Finding site Chromosome pair 17 true Inferred relationship Existential restriction modifier 1
17q11 deletion syndrome Finding site Chromosome pair 17 false Inferred relationship Existential restriction modifier 2
17q11 deletion syndrome Associated morphology Deletion of long arm false Inferred relationship Existential restriction modifier 2
17q11 deletion syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 2
17q11 deletion syndrome Finding site Structure of nervous system true Inferred relationship Existential restriction modifier 3
17q11 deletion syndrome Associated morphology Neurofibromatosis true Inferred relationship Existential restriction modifier 3
17q11 deletion syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 3
17q11 deletion syndrome Pathological process Pathological developmental process false Inferred relationship Existential restriction modifier 3
17q11 deletion syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 4
17q11 deletion syndrome Pathological process Pathological developmental process false Inferred relationship Existential restriction modifier 4
17q11 deletion syndrome Finding site Skin structure true Inferred relationship Existential restriction modifier 4
17q11 deletion syndrome Associated morphology Neurofibromatosis true Inferred relationship Existential restriction modifier 4
17q11 deletion syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 1
17q11 deletion syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 2
17q11 deletion syndrome Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier
17q11 deletion syndrome Is a Congenital malformation true Inferred relationship Existential restriction modifier
17q11 deletion syndrome Finding site Long arm of chromosome true Inferred relationship Existential restriction modifier 2
17q11 deletion syndrome Associated morphology Partial monosomy true Inferred relationship Existential restriction modifier 2
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

Back to Start