719649004: 1q44 microdeletion syndrome (disorder)

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

\Disorder of foetus and/or newborn\Congenital disease\...

\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\1q44 microdeletion syndrome (disorder)

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

\Monosomy and deletion from autosome (disorder)\Deletion of part of autosome\Deletion of part of chromosome 1 (disorder)\1q partial monosomy (disorder)\1q44 microdeletion syndrome (disorder)

\Anomaly of chromosome pair 1\Deletion of part of chromosome 1 (disorder)\1q partial monosomy (disorder)\1q44 microdeletion syndrome (disorder)

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

\Monosomy and deletion from autosome (disorder)\Deletion of part of autosome\Deletion of part of chromosome 1 (disorder)\1q partial monosomy (disorder)\1q44 microdeletion syndrome (disorder)

\Anomaly of chromosome pair 1\Deletion of part of chromosome 1 (disorder)\1q partial monosomy (disorder)\1q44 microdeletion syndrome (disorder)

\Developmental disorder (disorder)\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\1q44 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

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

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 Only initial character case insensitive (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 Only initial character 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 Only initial character 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

3317242013 A newly described syndrome associated with facial dysmorphism, developmental delay, in particular of expressive speech, seizures and hypotonia. It has been reported in four unrelated patients. The most common facial features include microcephaly, hypertelorism and thin upper lip. An abnormal corpus callosum (agenesis, hypogenesis or slightly reduced thickness) is observed in all affected patients. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

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

3422391001000114 Mikrodeletionssyndrom 1q44 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

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

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 (disorder)	Is a	1q partial monosomy (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
1q44 microdeletion syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
1q44 microdeletion syndrome (disorder)	Finding site	Chromosome pair 1	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
1q44 microdeletion syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
1q44 microdeletion syndrome (disorder)	Finding site	Chromosome pair 1	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
1q44 microdeletion syndrome (disorder)	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
1q44 microdeletion syndrome (disorder)	Associated morphology	Deletion of long arm	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
1q44 microdeletion syndrome (disorder)	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
1q44 microdeletion syndrome (disorder)	Finding site	Long arm of chromosome (cell structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
1q44 microdeletion syndrome (disorder)	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
1q44 microdeletion syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
1q44 microdeletion syndrome (disorder)	Is a	Multiple system malformation syndrome	true	Inferred relationship	Existential restriction modifier (core metadata concept)
1q44 microdeletion syndrome (disorder)	Associated morphology	Partial monosomy (morphologic abnormality)	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)