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716515000: 1q41q42 microdeletion syndrome (disorder)

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

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

\Monosomy and deletion from autosome\Deletion of part of autosome\Deletion of part of chromosome 1\1q partial monosomy\1q41q42 microdeletion syndrome

\Anomaly of chromosome pair 1\Deletion of part of chromosome 1\1q partial monosomy\1q41q42 microdeletion syndrome

\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\1q41q42 microdeletion syndrome
\Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Monosomy and deletion from autosome\Deletion of part of autosome\Deletion of part of chromosome 1\1q partial monosomy\1q41q42 microdeletion syndrome
\Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 1\Deletion of part of chromosome 1\1q partial monosomy\1q41q42 microdeletion syndrome

\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\1q41q42 microdeletion syndrome

Status: current, Primitive. Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3306159010 1q41q42 microdeletion syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3306160017 1q41q42 microdeletion syndrome en Synonym Active Case insensitive SNOMED CT core

3306161018 Monosomy 1q41q42 en Synonym Active Case insensitive SNOMED CT core

3306162013 1q41-q42 microdeletion syndrome en Synonym Active Case insensitive SNOMED CT core

3306163015 A chromosomal anomaly with characteristics of severe developmental delay and/or intellectual disability, typical facial dysmorphic features, brain anomalies, seizures, cleft palate, clubfeet, nail hypoplasia and congenital heart disease. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
1q41q42 microdeletion syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
1q41q42 microdeletion syndrome	Finding site	Long arm of chromosome	true	Inferred relationship	Some	1
1q41q42 microdeletion syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
1q41q42 microdeletion syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
1q41q42 microdeletion syndrome	Associated morphology	Partial monosomy	true	Inferred relationship	Some	2
1q41q42 microdeletion syndrome	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
1q41q42 microdeletion syndrome	Associated morphology	Partial monosomy	true	Inferred relationship	Some	1
1q41q42 microdeletion syndrome	Is a	Anomaly of chromosome pair 1	false	Inferred relationship	Some
1q41q42 microdeletion syndrome	Is a	Deletion of part of autosome	false	Inferred relationship	Some
1q41q42 microdeletion syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
1q41q42 microdeletion syndrome	Finding site	Chromosome pair 1	true	Inferred relationship	Some	2
1q41q42 microdeletion syndrome	Occurrence	Congenital	false	Inferred relationship	Some	3
1q41q42 microdeletion syndrome	Finding site	Chromosome pair 1	false	Inferred relationship	Some	3
1q41q42 microdeletion syndrome	Associated morphology	Deletion of long arm	false	Inferred relationship	Some	2
1q41q42 microdeletion syndrome	Associated morphology	Partial monosomy	false	Inferred relationship	Some	3
1q41q42 microdeletion syndrome	Is a	1q partial monosomy	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3306159010	1q41q42 microdeletion syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3306160017	1q41q42 microdeletion syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3306161018	Monosomy 1q41q42	en	Synonym	Active	Case insensitive	SNOMED CT core
3306162013	1q41-q42 microdeletion syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3306163015	A chromosomal anomaly with characteristics of severe developmental delay and/or intellectual disability, typical facial dysmorphic features, brain anomalies, seizures, cleft palate, clubfeet, nail hypoplasia and congenital heart disease.	en	Definition	Active	Case sensitive	SNOMED CT core