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719658006: 2q24 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
3317273012 2q24 microdeletion syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3317274018 2q24 microdeletion syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3317275017 Monosomy 2q24 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5402188012 2q24 microdeletion syndrome is a chromosomal anomaly consisting of a partial long arm deletion of chromosome 2 and characterized clinically by a wide range of manifestations (depending on the specific region deleted) which can include seizures, microcephaly, dysmorphic features, cleft palate, eye abnormalities (coloboma, cataract and microphthalmia), growth retardation, failure to thrive, heart defects, limb anomalies, developmental delay and autism. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402189016 2q24 microdeletion syndrome is a chromosomal anomaly consisting of a partial long arm deletion of chromosome 2 and characterised clinically by a wide range of manifestations (depending on the specific region deleted) which can include seizures, microcephaly, dysmorphic features, cleft palate, eye abnormalities (coloboma, cataract and microphthalmia), growth retardation, failure to thrive, heart defects, limb anomalies, developmental delay and autism. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3317273012 2q24 microdeletion syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3317273012 2q24 microdeletion syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3317274018 2q24 microdeletion syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3317274018 2q24 microdeletion syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3317275017 Monosomy 2q24 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3317275017 Monosomy 2q24 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3317276016 A chromosomal anomaly consisting of a partial long arm deletion of chromosome 2 with clinical characteristics of a wide range of manifestations (depending on the specific region deleted) which can include seizures, microcephaly, dysmorphic features, cleft palate, eye abnormalities (coloboma, cataract and microphthalmia), growth retardation, failure to thrive, heart defects, limb anomalies, developmental delay and autism. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402188012 2q24 microdeletion syndrome is a chromosomal anomaly consisting of a partial long arm deletion of chromosome 2 and characterized clinically by a wide range of manifestations (depending on the specific region deleted) which can include seizures, microcephaly, dysmorphic features, cleft palate, eye abnormalities (coloboma, cataract and microphthalmia), growth retardation, failure to thrive, heart defects, limb anomalies, developmental delay and autism. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402189016 2q24 microdeletion syndrome is a chromosomal anomaly consisting of a partial long arm deletion of chromosome 2 and characterised clinically by a wide range of manifestations (depending on the specific region deleted) which can include seizures, microcephaly, dysmorphic features, cleft palate, eye abnormalities (coloboma, cataract and microphthalmia), growth retardation, failure to thrive, heart defects, limb anomalies, developmental delay and autism. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3452671001000116 Mikrodeletionssyndrom 2q24 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
965751000172114 del(2)(q24) fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
983231000172112 syndrome de microdélétion 2q24 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
965751000172114 del(2)(q24) fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
983231000172112 syndrome de microdélétion 2q24 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3452671001000116 Mikrodeletionssyndrom 2q24 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
2q24 microdeletion syndrome (disorder) Is a Anomaly of chromosome pair 2 false Inferred relationship Existential restriction modifier (core metadata concept)
2q24 microdeletion syndrome (disorder) Is a Deletion of part of autosome false Inferred relationship Existential restriction modifier (core metadata concept)
2q24 microdeletion syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
2q24 microdeletion syndrome (disorder) Finding site Chromosome pair 2 (cell structure) false Inferred relationship Existential restriction modifier (core metadata concept) 2
2q24 microdeletion syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 3
2q24 microdeletion syndrome (disorder) Finding site Chromosome pair 2 (cell structure) false Inferred relationship Existential restriction modifier (core metadata concept) 3
2q24 microdeletion syndrome (disorder) Associated morphology Deletion of long arm false Inferred relationship Existential restriction modifier (core metadata concept) 2
2q24 microdeletion syndrome (disorder) Associated morphology Partial monosomy (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 3
2q24 microdeletion syndrome (disorder) Is a Deletion of part of long arm of chromosome 2 (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
2q24 microdeletion syndrome (disorder) Is a Congenital malformation true Inferred relationship Existential restriction modifier (core metadata concept)
2q24 microdeletion syndrome (disorder) Finding site Long arm of chromosome (cell structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
2q24 microdeletion syndrome (disorder) Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 2
2q24 microdeletion syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
2q24 microdeletion syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
2q24 microdeletion syndrome (disorder) Finding site Chromosome pair 2 (cell structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
2q24 microdeletion syndrome (disorder) Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
2q24 microdeletion syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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