Congenital cataract ichthyosis syndrome 732952003

SNOMED CT code

SNOMED code

732952003

name

Congenital cataract ichthyosis syndrome

status

active

date introduced

2017-07-31

fully specified name(s)

Congenital cataract ichthyosis syndrome (disorder)

synonyms

Congenital cataract ichthyosis syndrome

attributes - group2

Pathological process

Pathological developmental process 308490002

Associated morphology

Hyperkeratosis 26996000

Finding site

Entire skin 181469002

Occurrence

Congenital 255399007

attributes - group1

Occurrence

Congenital 255399007

Pathological process

Pathological developmental process 308490002

Finding site

Lens clear 78076003

Associated morphology

Opacity 128305008

attributes - group3

Has interpretation

Abnormal 263654008

Interprets

Keratinization 44138005

parents

Hereditary disorder of the visual system 363343008
Autosomal recessive ichthyosis 402772005
Congenital cataract 79410001

hierarchies

a selection of possible paths

SNOMED CT Concept 138875005
Clinical finding 404684003
Eye / vision finding 118235002
Visual system disorder 128127008
Hereditary disorder of the visual system 363343008
Congenital cataract ichthyosis syndrome 732952003

SNOMED CT Concept 138875005
Clinical finding 404684003
Integumentary system finding 106077005
Skin finding 106076001
Rough skin 816995008
Congenital ichthyosis of skin 13059002
Autosomal recessive ichthyosis 402772005
Congenital cataract ichthyosis syndrome 732952003

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Degenerative disorder 362975008
Degenerative disorder of eye 62585004
Cataract 193570009
Congenital cataract 79410001
Congenital cataract ichthyosis syndrome 732952003

ancestors

sorted most to least specific

Hereditary disorder of the visual system 363343008
Autosomal recessive ichthyosis 402772005
Congenital cataract 79410001
Congenital ichthyosis of skin 13059002
Congenital anomaly of lens 128353007
Autosomal recessive hereditary disorder 85995004
Cataract 193570009
Genodermatosis 239001006
Disorder of lens 10810001
Autosomal hereditary disorder 1899006
Inherited disorder of keratinization 254214009
Developmental hereditary disorder 363070008
Ichthyosis 782957005
Rough skin 816995008
Congenital anomaly of anterior segment of eye 429448005
Cataract finding 247052002
Lesion of eye 301905003
Degenerative disorder of eye 62585004
Congenital anomaly of skin 199879009
Disorder of anterior segment of eye 128535002
Disorder of keratinization 277905003
Keratoderma 707209001
Crystalline lens finding 247049005
Hereditary disorder of the integument 363185004
Congenital anomaly of eye 19416009
Degenerative disorder 362975008
Congenital anomaly of integument 38164009
Hereditary disorder by system 363137000
Keratosis 254666005
Disorder of skin 95320005
Anterior segment finding 418727003
Abnormal keratinization 69707008
Anomaly of eye 11131000119108
Congenital anomaly of visual system 127329003
Congenital anomaly of head 87290003
Disorder of eye 371405004
Hereditary disease 32895009
Skin finding 106076001
Congenital malformation 276654001
Disorder of skin and/or subcutaneous tissue 80659006
Functional finding 118228005
Disorder of integument 128598002
Disorder of sensory organ 1279550006
Genetic disease 782964007
Developmental disorder 5294002
Globe finding 246915008
Disorder of eye region 371409005
Skin AND/OR mucosa finding 415531008
Congenital disease 66091009
Disorder of soft tissue 19660004
Visual system disorder 128127008
Integumentary system finding 106077005
Disorder of head 118934005
General finding of soft tissue 248402002
Finding of head region 298364001
Eye / vision finding 118235002
Disorder of body system 362965005
Head finding 406122000
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

Eye / vision finding 118235002

Visual system disorder 128127008

Hereditary disorder of the visual system 363343008

Congenital cataract ichthyosis syndrome 732952003

SNOMED CT code