719649004: 1q44 microdeletion syndrome (disorder)

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

\Fetal and/or neonatal disorder\Congenital disease\...

\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\1q44 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, developmental delay, in particular of expressive speech, seizures and hypotonia.

\Congenital chromosomal disease\Anomaly of chromosome pair\...

\Monosomy and deletion from autosome\Deletion of part of autosome\Deletion of part of chromosome 1 (disorder)\1q partial monosomy\1q44 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, developmental delay, in particular of expressive speech, seizures and hypotonia.

\Anomaly of chromosome pair 1\Deletion of part of chromosome 1 (disorder)\1q partial monosomy\1q44 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, developmental delay, in particular of expressive speech, seizures and hypotonia.

\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 1 (disorder)\1q partial monosomy\1q44 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, developmental delay, in particular of expressive speech, seizures and hypotonia.

\Anomaly of chromosome pair 1\Deletion of part of chromosome 1 (disorder)\1q partial monosomy\1q44 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, developmental delay, in particular of expressive speech, seizures and hypotonia.

\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\1q44 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, developmental delay, in particular of expressive speech, seizures and hypotonia.

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

5402180017 1q44 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, developmental delay, in particular of expressive speech, seizures and hypotonia. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3317239019 1q44 microdeletion syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3317240017 1q44 microdeletion syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3317241018 Monosomy 1q44 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

888581000172114 del(1)(q44) fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

891961000172115 syndrome de microdélétion 1q44 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3422391001000114 Mikrodeletionssyndrom 1q44 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
1q44 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, developmental delay, in particular of expressive speech, seizures and hypotonia.	Is a	1q partial monosomy	true	Inferred relationship	Some
1q44 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, developmental delay, in particular of expressive speech, seizures and hypotonia.	Occurrence	Congenital	true	Inferred relationship	Some	2
1q44 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, developmental delay, in particular of expressive speech, seizures and hypotonia.	Finding site	Chromosome pair 1	true	Inferred relationship	Some	2
1q44 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, developmental delay, in particular of expressive speech, seizures and hypotonia.	Occurrence	Congenital	false	Inferred relationship	Some	3
1q44 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, developmental delay, in particular of expressive speech, seizures and hypotonia.	Finding site	Chromosome pair 1	false	Inferred relationship	Some	3
1q44 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, developmental delay, in particular of expressive speech, seizures and hypotonia.	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Some	2
1q44 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, developmental delay, in particular of expressive speech, seizures and hypotonia.	Associated morphology	Deletion of long arm	false	Inferred relationship	Some	3
1q44 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, developmental delay, in particular of expressive speech, seizures and hypotonia.	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
1q44 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, developmental delay, in particular of expressive speech, seizures and hypotonia.	Finding site	Long arm of chromosome	true	Inferred relationship	Some	1
1q44 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, developmental delay, in particular of expressive speech, seizures and hypotonia.	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
1q44 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, developmental delay, in particular of expressive speech, seizures and hypotonia.	Occurrence	Congenital	true	Inferred relationship	Some	1
1q44 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, developmental delay, in particular of expressive speech, seizures and hypotonia.	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
1q44 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, developmental delay, in particular of expressive speech, seizures and hypotonia.	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Some	1

Inbound Relationships

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Reference Sets

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