Arachnodactyly and intellectual disability with facial dysmorphism syndrome 720502000

SNOMED CT code

SNOMED code

720502000

name

Arachnodactyly and intellectual disability with facial dysmorphism syndrome

status

active

date introduced

2017-01-31

fully specified name(s)

Arachnodactyly and intellectual disability with facial dysmorphism syndrome (disorder)

synonyms

Arachnodactyly and intellectual disability with facial dysmorphism syndrome
De Die, Smulders, Vles, Fryns syndrome

attributes - group2

Pathological process

Pathological developmental process 308490002

Associated morphology

Morphologically abnormal structure 49755003

Occurrence

Congenital 255399007

Finding site

Face structure 89545001

attributes - group1

Finding site

Digit structure 82680008

Pathological process

Pathological developmental process 308490002

Occurrence

Congenital 255399007

Associated morphology

Abnormally long and slender growth 788144009

attributes - group3

Interprets

Intellectual ability 247573007

Has interpretation

Impaired 260379002

attributes - group4

Interprets

Adaptation behavior 406208005

Has interpretation

Impaired 260379002

parents

Intellectual disability 110359009
Multiple malformation syndrome with facial-limb defects as major feature 23359005
Arachnodactyly 62250003

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
Arachnodactyly and intellectual disability with facial dysmorphism syndrome 720502000

SNOMED CT Concept 138875005
Clinical finding 404684003
Finding of limb structure 302293008
Disorder of limb 128605003
Congenital anomaly of limb 60475009
Multiple malformation syndrome with facial-limb defects as major feature 23359005
Arachnodactyly and intellectual disability with facial dysmorphism syndrome 720502000

SNOMED CT Concept 138875005
Clinical finding 404684003
Finding of limb structure 302293008
Deformity of limb 445144002
Arachnodactyly 62250003
Arachnodactyly and intellectual disability with facial dysmorphism syndrome 720502000

ancestors

sorted most to least specific

Intellectual disability 110359009
Multiple malformation syndrome with facial-limb defects as major feature 23359005
Arachnodactyly 62250003
Intellectual ability - finding 365814006
Multiple malformation syndrome with limb defect as major feature 41443008
Congenital deformity 276655000
Impaired cognition 386806002
Neurodevelopmental disorder 700364009
Behavior finding 844005
Multiple malformation syndrome with facial defects as major feature 65094009
Deformity of limb 445144002
Congenital abnormal shape of digit 92907008
Intelligence finding 106137004
Multiple system malformation syndrome 82354003
Cognitive function finding 373930000
Mental state, behavior and/or psychosocial function finding 384821006
Congenital anomaly of face 398302004
Congenital anomaly of digit 403855001
Deformity 417893002
Functional finding 118228005
Congenital malformation syndrome 400038003
Congenital anomaly of limb 60475009
Disorder of face 118930001
Disorder of digit 128597007
Congenital anomaly of head 87290003
Congenital malformation 276654001
Disorder of limb 128605003
Disorder of head 118934005
Finding of face 301310005
Developmental disorder 5294002
Finding of limb structure 302293008
Congenital disease 66091009
Finding of head region 298364001
Disease 64572001
Head finding 406122000
Finding of head and neck region 118254002
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

Arachnodactyly and intellectual disability with facial dysmorphism syndrome 720502000

SNOMED CT code