Hyperferritinemia cataract syndrome 702398007

SNOMED CT code

SNOMED code

702398007

name

Hyperferritinemia cataract syndrome

status

active

date introduced

2014-07-31

fully specified name(s)

Hyperferritinemia cataract syndrome (disorder)

synonyms

Hereditary hyperferritinemia-cataract syndrome
Hyperferritinemia cataract syndrome
Bonneau-Beaumont syndrome

attributes - group1

Finding site

Lens clear 78076003

Associated morphology

Opacity 128305008

attributes - group2

Associated with

Serum ferritin above reference range 390943009

parents

Autosomal dominant hereditary disorder 11164009
Cataract 193570009
Hereditary disorder of the visual system 363343008

hierarchies

a selection of possible paths

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Genetic disease 782964007
Hereditary disease 32895009
Autosomal hereditary disorder 1899006
Autosomal dominant hereditary disorder 11164009
Hyperferritinemia cataract syndrome 702398007

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Degenerative disorder 362975008
Degenerative disorder of eye 62585004
Cataract 193570009
Hyperferritinemia cataract syndrome 702398007

SNOMED CT Concept 138875005
Clinical finding 404684003
Eye / vision finding 118235002
Visual system disorder 128127008
Hereditary disorder of the visual system 363343008
Hyperferritinemia cataract syndrome 702398007

ancestors

sorted most to least specific

Autosomal dominant hereditary disorder 11164009
Cataract 193570009
Hereditary disorder of the visual system 363343008
Autosomal hereditary disorder 1899006
Disorder of lens 10810001
Cataract finding 247052002
Lesion of eye 301905003
Degenerative disorder of eye 62585004
Hereditary disorder by system 363137000
Hereditary disease 32895009
Disorder of anterior segment of eye 128535002
Crystalline lens finding 247049005
Anomaly of eye 11131000119108
Degenerative disorder 362975008
Genetic disease 782964007
Disorder of eye 371405004
Anterior segment finding 418727003
Disorder of sensory organ 1279550006
Globe finding 246915008
Disorder of eye region 371409005
Visual system disorder 128127008
Disorder of head 118934005
Finding of head region 298364001
Eye / vision finding 118235002
Head finding 406122000
Disorder of body system 362965005
Disease 64572001
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

Disease 64572001

Genetic disease 782964007

Hereditary disease 32895009

Autosomal hereditary disorder 1899006

Autosomal dominant hereditary disorder 11164009

Hyperferritinemia cataract syndrome 702398007

SNOMED CT code