Optic atrophy, intellectual disability syndrome 770723007

SNOMED CT code

SNOMED code

770723007

name

Optic atrophy, intellectual disability syndrome

status

active

date introduced

2019-01-31

fully specified name(s)

Optic atrophy, intellectual disability syndrome (disorder)

synonyms

Bosch Boonstra Schaaf optic atrophy syndrome
BBSOAS - Bosch Boonstra Schaaf optic atrophy syndrome
Optic atrophy, intellectual disability syndrome

attributes - group2

Pathological process

Pathological developmental process 308490002

attributes - group3

Interprets

Intellectual ability 247573007

Has interpretation

Impaired 260379002

attributes - group4

Interprets

Adaptation behavior 406208005

Has interpretation

Impaired 260379002

attributes - group1

Associated morphology

Primary atrophy 68616007

Finding site

Optic nerve structure 18234004

parents

Intellectual disability 110359009
Dominant hereditary optic atrophy 2065009
Developmental hereditary disorder 363070008

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
Optic atrophy, intellectual disability syndrome 770723007

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Genetic disease 782964007
Hereditary disease 32895009
Autosomal hereditary disorder 1899006
Autosomal dominant hereditary disorder 11164009
Dominant hereditary optic atrophy 2065009
Optic atrophy, intellectual disability syndrome 770723007

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Developmental disorder 5294002
Developmental hereditary disorder 363070008
Optic atrophy, intellectual disability syndrome 770723007

ancestors

sorted most to least specific

Intellectual disability 110359009
Dominant hereditary optic atrophy 2065009
Developmental hereditary disorder 363070008
Intellectual ability - finding 365814006
Autosomal dominant hereditary disorder 11164009
Impaired cognition 386806002
Neurodevelopmental disorder 700364009
Behavior finding 844005
Hereditary optic atrophy 26360005
Intelligence finding 106137004
Autosomal hereditary disorder 1899006
Cognitive function finding 373930000
Developmental disorder 5294002
Mental state, behavior and/or psychosocial function finding 384821006
Hereditary degenerative disease of central nervous system 106018006
Primary optic atrophy 21098003
Inherited optic neuropathy 312942003
Functional finding 118228005
Hereditary disorder of nervous system 363235000
Optic atrophy 76976005
Hereditary disorder of the visual system 363343008
Disorder of optic nerve 77157004
Degenerative disease of the central nervous system 80690008
Hereditary disorder by system 363137000
Hereditary disease 32895009
Disorder of visual pathways 54767005
Cranial nerve disorder 73013002
Degenerative disorder 362975008
Genetic disease 782964007
Visual system disorder 128127008
Disorder of the central nervous system 23853001
Neuropathy 386033004
Disorder of nervous system 118940003
Eye / vision finding 118235002
Central nervous system finding 246556002
Disorder of body system 362965005
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

Optic atrophy, intellectual disability syndrome 770723007

SNOMED CT code