Autosomal recessive keratitis-ichthyosis-deafness syndrome 403780007

SNOMED CT code

SNOMED code

403780007

name

Autosomal recessive keratitis-ichthyosis-deafness syndrome

status

active

date introduced

2003-07-31

fully specified name(s)

Autosomal recessive keratitis-ichthyosis-deafness syndrome (disorder)

synonyms

Autosomal recessive keratitis-ichthyosis-deafness syndrome
Autosomal recessive KID (keratitis, ichthyosis, deafness) syndrome

attributes - group1

Pathological process

Pathological developmental process 308490002

Associated morphology

Hyperkeratosis 26996000

Finding site

Entire skin 181469002

Occurrence

Congenital 255399007

attributes - group2

Interprets

Keratinization 44138005

Has interpretation

Abnormal 263654008

attributes - group3

Finding site

Auditory structure 91159003

Occurrence

Congenital 255399007

attributes - group4

Occurrence

Congenital 255399007

Pathological process

Pathological developmental process 308490002

Associated morphology

Dysplasia 25723000

Finding site

Ectoderm structure 63206006

attributes - group5

Interprets

Hearing 47078008

Has interpretation

Decreased 1250004

parents

KID syndrome 239059004
Autosomal recessive ichthyosis 402772005

hierarchies

a selection of possible paths

SNOMED CT Concept 138875005
Clinical finding 404684003
Functional finding 118228005
Hearing finding 118230007
Decreased hearing 103276001
KID syndrome 239059004
Autosomal recessive keratitis-ichthyosis-deafness syndrome 403780007

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
Autosomal recessive keratitis-ichthyosis-deafness syndrome 403780007

ancestors

sorted most to least specific

KID syndrome 239059004
Autosomal recessive ichthyosis 402772005
Decreased hearing 103276001
Hearing loss associated with syndrome 232333009
Cutaneous syndrome with ichthyosis 239057002
Auditory system hereditary disorder 362991006
Ectodermal dysplasia 8654005
Congenital hearing disorder 95827002
Autosomal recessive hereditary disorder 85995004
Congenital ichthyosis of skin 13059002
Hearing loss 15188001
Decline in functional status 154091000119106
Autosomal hereditary disorder 1899006
Congenital ectodermal defect 254154003
Genodermatosis 239001006
Hearing disorder 128540005
Inherited disorder of keratinization 254214009
Developmental hereditary disorder 363070008
Ichthyosis 782957005
Rough skin 816995008
Disorder of embryonic structure 609521009
Hearing finding 118230007
Congenital anomaly of skin 199879009
Disorder of auditory system 362966006
Disorder of keratinization 277905003
Keratoderma 707209001
Hereditary disorder of the integument 363185004
Congenital anomaly of integument 38164009
Ear and auditory finding 118236001
Keratosis 254666005
Disorder of skin 95320005
Hereditary disorder by system 363137000
Abnormal keratinization 69707008
Functional finding 118228005
Hereditary disease 32895009
Skin finding 106076001
Congenital malformation 276654001
Disorder of skin and/or subcutaneous tissue 80659006
Disorder of integument 128598002
Genetic disease 782964007
Developmental disorder 5294002
Congenital disease 66091009
Skin AND/OR mucosa finding 415531008
Disorder of soft tissue 19660004
Integumentary system finding 106077005
Disorder of body system 362965005
General finding of soft tissue 248402002
Disease 64572001
Clinical finding 404684003
SNOMED CT Concept 138875005

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SNOMED CT Concept 138875005

Clinical finding 404684003

Functional finding 118228005

Hearing finding 118230007

Decreased hearing 103276001

KID syndrome 239059004

Autosomal recessive keratitis-ichthyosis-deafness syndrome 403780007

SNOMED CT code