ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder 766824003

SNOMED CT code

SNOMED code

766824003

name

ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder

status

active

date introduced

2018-07-31

fully specified name(s)

Activity dependent neuroprotector homeobox related multiple congenital anomalies, intellectual disability, autism spectrum disorder (disorder)

synonyms

Helsmoortel-van der Aa syndrome
ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder
Activity dependent neuroprotector homeobox related multiple congenital anomalies, intellectual disability, autism spectrum disorder

attributes - group1

Associated morphology

Morphologically abnormal structure 49755003

Pathological process

Pathological developmental process 308490002

Occurrence

Congenital 255399007

Finding site

Face structure 89545001

attributes - group2

Interprets

Intellectual ability 247573007

Has interpretation

Impaired 260379002

attributes - group3

Interprets

Adaptation behavior 406208005

Has interpretation

Impaired 260379002

parents

Intellectual disability 110359009
Pervasive developmental disorder 35919005
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
ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder 766824003

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Mental disorder 74732009
Developmental mental disorder 129104009
Disorder of psychological development 192562009
Pervasive developmental disorder 35919005
ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder 766824003

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
ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder 766824003

ancestors

sorted most to least specific

Intellectual disability 110359009
Pervasive developmental disorder 35919005
Multiple malformation syndrome with facial defects as major feature 65094009
Intellectual ability - finding 365814006
Disorder of psychological development 192562009
Congenital anomaly of face 398302004
Impaired cognition 386806002
Behavior finding 844005
Multiple system malformation syndrome 82354003
Intelligence finding 106137004
Developmental mental disorder 129104009
Disorder of face 118930001
Cognitive function finding 373930000
Mental state, behavior and/or psychosocial function finding 384821006
Congenital malformation syndrome 400038003
Congenital anomaly of head 87290003
Functional finding 118228005
Neurodevelopmental disorder 700364009
Disorder of head 118934005
Mental disorder 74732009
Congenital malformation 276654001
Finding of face 301310005
Developmental disorder 5294002
Finding of head region 298364001
Congenital disease 66091009
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

ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder 766824003

SNOMED CT code