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

718615003: 8q21.11 microdeletion syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3312948011 8q21.11 microdeletion syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3312949015 8q21.11 microdeletion syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3312950015 Monosomy 8q21.11 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5401798011 8q21.11 microdeletion syndrome encompasses heterozygous overlapping microdeletions on chromosome 8q21.11 resulting in intellectual disability, facial dysmorphism comprising a round face, ptosis, short philtrum, Cupid's bow and prominent low-set ears, nasal speech and mild finger and toe anomalies. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3312948011 8q21.11 microdeletion syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3312948011 8q21.11 microdeletion syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3312949015 8q21.11 microdeletion syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3312949015 8q21.11 microdeletion syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3312950015 Monosomy 8q21.11 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3312950015 Monosomy 8q21.11 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3312953018 Encompasses heterozygous overlapping microdeletions on chromosome 8q21.11 resulting in intellectual disability, facial dysmorphism comprising a round face, ptosis, short philtrum, Cupid's bow and prominent low-set ears, nasal speech and mild finger and toe anomalies. The prevalence is unknown but 8q21.11 microdeletion syndrome is rare. Microdeletions appear de novo or are inherited from affected parents in an autosomal dominant manner. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401798011 8q21.11 microdeletion syndrome encompasses heterozygous overlapping microdeletions on chromosome 8q21.11 resulting in intellectual disability, facial dysmorphism comprising a round face, ptosis, short philtrum, Cupid's bow and prominent low-set ears, nasal speech and mild finger and toe anomalies. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3388211001000114 Mikrodeletionssyndrom 8q21.11 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
911571000172111 syndrome de microdélétion 8q21.11 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
959951000172116 del(8)(q21.11) fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
911571000172111 syndrome de microdélétion 8q21.11 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
959951000172116 del(8)(q21.11) fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3388211001000114 Mikrodeletionssyndrom 8q21.11 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
8q21.11 microdeletion syndrome (disorder) Is a 8q partial monosomy syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
8q21.11 microdeletion syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
8q21.11 microdeletion syndrome (disorder) Finding site Chromosome pair 8 true Inferred relationship Existential restriction modifier (core metadata concept) 2
8q21.11 microdeletion syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
8q21.11 microdeletion syndrome (disorder) Finding site Chromosome pair 8 true Inferred relationship Existential restriction modifier (core metadata concept) 3
8q21.11 microdeletion syndrome (disorder) Associated morphology Deletion of long arm true Inferred relationship Existential restriction modifier (core metadata concept) 2
8q21.11 microdeletion syndrome (disorder) Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

Description inactivation indicator reference set

GB English

US English

Back to Start