Congenital hereditary endothelial dystrophy and perceptive deafness syndrome 720749004

SNOMED CT code

SNOMED code

720749004

name

Congenital hereditary endothelial dystrophy and perceptive deafness syndrome

status

active

date introduced

2017-01-31

fully specified name(s)

Congenital hereditary endothelial dystrophy and perceptive deafness syndrome (disorder)

synonyms

Corneal dystrophy and perceptive deafness syndrome
Corneal dystrophy with progressive deafness
Harboyan syndrome
Congenital hereditary endothelial dystrophy and perceptive deafness syndrome

attributes - group2

Finding site

Auditory structure 91159003

attributes - group3

Has interpretation

Impaired 260379002

Interprets

Hearing 47078008

attributes - group4

Pathological process

Pathological developmental process 308490002

Associated morphology

Dystrophy 4720007

Occurrence

Congenital 255399007

Finding site

Structure of corneal endothelium 65431007

attributes - group1

Occurrence

Congenital 255399007

Finding site

Chromosome pair 20 25610001

Associated morphology

Cellular AND/OR subcellular abnormality 107673000

Pathological process

Pathological developmental process 308490002

parents

Congenital corneal dystrophy 1003408005
Hearing loss associated with syndrome 232333009
Auditory system hereditary disorder 362991006
Congenital hereditary endothelial dystrophy 417651000
Sensorineural hearing loss 60700002
Autosomal recessive hereditary disorder 85995004

hierarchies

a selection of possible paths

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Degenerative disorder 362975008
Degenerative disorder of eye 62585004
Corneal degeneration 111521006
Corneal dystrophy 5587004
Congenital corneal dystrophy 1003408005
Congenital hereditary endothelial dystrophy and perceptive deafness syndrome 720749004

SNOMED CT Concept 138875005
Clinical finding 404684003
Functional finding 118228005
Hearing finding 118230007
Hearing disorder 128540005
Hearing loss 15188001
Hearing loss associated with syndrome 232333009
Congenital hereditary endothelial dystrophy and perceptive deafness syndrome 720749004

SNOMED CT Concept 138875005
Clinical finding 404684003
Ear and auditory finding 118236001
Disorder of auditory system 362966006
Auditory system hereditary disorder 362991006
Congenital hereditary endothelial dystrophy and perceptive deafness syndrome 720749004

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Developmental disorder 5294002
Congenital malformation 276654001
Congenital hereditary endothelial dystrophy 417651000
Congenital hereditary endothelial dystrophy and perceptive deafness syndrome 720749004

SNOMED CT Concept 138875005
Clinical finding 404684003
Functional finding 118228005
Hearing finding 118230007
Hearing disorder 128540005
Hearing loss 15188001
Sensorineural hearing loss 60700002
Congenital hereditary endothelial dystrophy and perceptive deafness syndrome 720749004

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Genetic disease 782964007
Hereditary disease 32895009
Autosomal hereditary disorder 1899006
Autosomal recessive hereditary disorder 85995004
Congenital hereditary endothelial dystrophy and perceptive deafness syndrome 720749004

ancestors

sorted most to least specific

Congenital corneal dystrophy 1003408005
Hearing loss associated with syndrome 232333009
Auditory system hereditary disorder 362991006
Congenital hereditary endothelial dystrophy 417651000
Sensorineural hearing loss 60700002
Autosomal recessive hereditary disorder 85995004
Congenital anomaly of cornea 128352002
Hearing loss 15188001
Autosomal hereditary disorder 1899006
Developmental hereditary disorder 363070008
Corneal endothelial dystrophy 416960004
Hereditary corneal dystrophy 77797009
Anomaly of chromosome pair 20 9839007
Hearing disorder 128540005
Congenital anomaly of anterior segment of eye 429448005
Corneal endothelium finding 246966003
Hereditary disorder of the visual system 363343008
Anomaly of chromosome pair 362984008
Posterior corneal dystrophy 35091000119101
Hearing finding 118230007
Disorder of auditory system 362966006
Corneal dystrophy 5587004
Hereditary disorder by system 363137000
Congenital chromosomal disease 74345006
Congenital anomaly of eye 19416009
Functional finding 118228005
Ear and auditory finding 118236001
Hereditary disease 32895009
Corneal degeneration 111521006
Chromosomal disorder 409709004
Congenital anomaly of visual system 127329003
Congenital anomaly of head 87290003
Disorder of cornea 15250008
Congenital malformation 276654001
Genetic disease 782964007
Degenerative disorder of eye 62585004
Disorder of anterior segment of eye 128535002
Developmental disorder 5294002
Corneal finding 246924004
Congenital disease 66091009
Anomaly of eye 11131000119108
Degenerative disorder 362975008
Disorder of eye 371405004
Anterior segment finding 418727003
Disorder of sensory organ 1279550006
Globe finding 246915008
Disorder of eye region 371409005
Disorder of head 118934005
Visual system disorder 128127008
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

Degenerative disorder 362975008

Degenerative disorder of eye 62585004

Corneal degeneration 111521006

Corneal dystrophy 5587004

Congenital corneal dystrophy 1003408005

Congenital hereditary endothelial dystrophy and perceptive deafness syndrome 720749004

SNOMED CT code