719660008: 4q21 microdeletion syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Fetal and/or neonatal disorder\Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\...

\Monosomy and deletion from autosome\Deletion of part of autosome\Deletion of part of chromosome 4 (disorder)\4q partial monosomy syndrome\The 4q21 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, progressive growth restriction, severe intellectual deficit and absent or severely delayed speech.

\Anomaly of chromosome pair 4\Deletion of part of chromosome 4 (disorder)\4q partial monosomy syndrome\The 4q21 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, progressive growth restriction, severe intellectual deficit and absent or severely delayed speech.

\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\...

\Monosomy and deletion from autosome\Deletion of part of autosome\Deletion of part of chromosome 4 (disorder)\4q partial monosomy syndrome\The 4q21 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, progressive growth restriction, severe intellectual deficit and absent or severely delayed speech.

\Anomaly of chromosome pair 4\Deletion of part of chromosome 4 (disorder)\4q partial monosomy syndrome\The 4q21 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, progressive growth restriction, severe intellectual deficit and absent or severely delayed speech.

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

5402192017 The 4q21 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, progressive growth restriction, severe intellectual deficit and absent or severely delayed speech. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3317281013 4q21 microdeletion syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3317282018 4q21 microdeletion syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3317283011 Monosomy 4q21 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

903221000172113 del(4)(q21) fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

944201000172113 syndrome de microdélétion 4q21 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3446431001000119 Mikrodeletionssyndrom 4q21 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
The 4q21 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, progressive growth restriction, severe intellectual deficit and absent or severely delayed speech.	Is a	4q partial monosomy syndrome	true	Inferred relationship	Some
The 4q21 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, progressive growth restriction, severe intellectual deficit and absent or severely delayed speech.	Occurrence	Congenital	true	Inferred relationship	Some	2
The 4q21 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, progressive growth restriction, severe intellectual deficit and absent or severely delayed speech.	Finding site	Chromosome pair 4 (cell structure)	true	Inferred relationship	Some	2
The 4q21 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, progressive growth restriction, severe intellectual deficit and absent or severely delayed speech.	Occurrence	Congenital	true	Inferred relationship	Some	3
The 4q21 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, progressive growth restriction, severe intellectual deficit and absent or severely delayed speech.	Finding site	Chromosome pair 4 (cell structure)	true	Inferred relationship	Some	3
The 4q21 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, progressive growth restriction, severe intellectual deficit and absent or severely delayed speech.	Associated morphology	Deletion of long arm	true	Inferred relationship	Some	2
The 4q21 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, progressive growth restriction, severe intellectual deficit and absent or severely delayed speech.	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Some	3

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Reference Sets

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