9q31.1q31.3 microdeletion syndrome 773493002

SNOMED CT code

SNOMED code

773493002

name

9q31.1q31.3 microdeletion syndrome

status

active

date introduced

2019-01-31

fully specified name(s)

9q31.1q31.3 microdeletion syndrome (disorder)

synonyms

9q31.1q31.3 microdeletion syndrome
Monosomy 9q31.1q31.3

attributes - group2

Finding site

Chromosome pair 9 13526007

Associated morphology

Partial monosomy 371169004

Occurrence

Congenital 255399007

attributes - group1

Occurrence

Congenital 255399007

Associated morphology

Morphologically abnormal structure 49755003

Finding site

Face structure 89545001

Pathological process

Pathological developmental process 308490002

attributes - group3

Occurrence

Congenital 255399007

Associated morphology

Deletion of long arm 64329008

Finding site

Chromosome pair 9 13526007

attributes - group4

Interprets

Intellectual ability 247573007

Has interpretation

Impaired 260379002

attributes - group5

Interprets

Adaptation behavior 406208005

Has interpretation

Impaired 260379002

parents

Intellectual disability 110359009
9q partial monosomy syndrome 43420005
Multiple malformation syndrome with facial defects as major feature 65094009

hierarchies

a selection of possible paths

SNOMED CT Concept 138875005
Clinical finding 404684003
Mental state, behavior and/or psychosocial function finding 384821006
Behavior finding 844005
Intellectual disability 110359009
9q31.1q31.3 microdeletion syndrome 773493002

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Chromosomal disorder 409709004
Congenital chromosomal disease 74345006
Anomaly of chromosome pair 362984008
Anomaly of chromosome pair 9 5051002
Deletion of part of chromosome 9 726379004
9q partial monosomy syndrome 43420005
9q31.1q31.3 microdeletion syndrome 773493002

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Disorder of head 118934005
Disorder of face 118930001
Congenital anomaly of face 398302004
Multiple malformation syndrome with facial defects as major feature 65094009
9q31.1q31.3 microdeletion syndrome 773493002

ancestors

sorted most to least specific

Intellectual disability 110359009
9q partial monosomy syndrome 43420005
Multiple malformation syndrome with facial defects as major feature 65094009
Intellectual ability - finding 365814006
Deletion of part of chromosome 9 726379004
Congenital anomaly of face 398302004
Impaired cognition 386806002
Neurodevelopmental disorder 700364009
Behavior finding 844005
Multiple system malformation syndrome 82354003
Intelligence finding 106137004
Deletion of part of autosome 254274004
Disorder of face 118930001
Cognitive function finding 373930000
Mental state, behavior and/or psychosocial function finding 384821006
Anomaly of chromosome pair 9 5051002
Congenital malformation syndrome 400038003
Congenital anomaly of head 87290003
Functional finding 118228005
Monosomy and deletion from autosome 205627002
Disorder of head 118934005
Congenital malformation 276654001
Finding of face 301310005
Anomaly of chromosome pair 362984008
Developmental disorder 5294002
Finding of head region 298364001
Congenital chromosomal disease 74345006
Head finding 406122000
Chromosomal disorder 409709004
Finding of head and neck region 118254002
Congenital disease 66091009
Disease 64572001
Clinical finding 404684003
SNOMED CT Concept 138875005

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SNOMED CT Concept 138875005

Clinical finding 404684003

Mental state, behavior and/or psychosocial function finding 384821006

Behavior finding 844005

Intellectual disability 110359009

9q31.1q31.3 microdeletion syndrome 773493002

SNOMED CT code