Johnson neuroectodermal syndrome 721584005

SNOMED CT code

SNOMED code

721584005

name

Johnson neuroectodermal syndrome

status

active

date introduced

2017-01-31

fully specified name(s)

Johnson neuroectodermal syndrome (disorder)

synonyms

Johnson McMillin syndrome
Johnson neuroectodermal syndrome
Alopecia, anosmia, deafness, hypogonadism syndrome

attributes - group2

Associated morphology

Morphologically abnormal structure 49755003

Pathological process

Pathological developmental process 308490002

Occurrence

Congenital 255399007

Finding site

Skin structure 39937001

attributes - group1

Finding site

Ectoderm structure 63206006

Pathological process

Pathological developmental process 308490002

Occurrence

Congenital 255399007

Associated morphology

Dysplasia 25723000

attributes - group4

Occurrence

Congenital 255399007

Finding site

Ear structure 117590005

Associated morphology

Morphologically abnormal structure 49755003

Pathological process

Pathological developmental process 308490002

attributes - group3

Has interpretation

Decreased 1250004

Interprets

Hearing 47078008

parents

Autosomal dominant hereditary disorder 11164009
Auditory system hereditary disorder 362991006
Developmental hereditary disorder 363070008
Hereditary disorder of the integument 363185004
Congenital conductive hearing loss 737344003
Multiple system malformation syndrome 82354003
Ectodermal dysplasia 8654005

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
Johnson neuroectodermal syndrome 721584005

SNOMED CT Concept 138875005
Clinical finding 404684003
Ear and auditory finding 118236001
Disorder of auditory system 362966006
Auditory system hereditary disorder 362991006
Johnson neuroectodermal syndrome 721584005

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Developmental disorder 5294002
Developmental hereditary disorder 363070008
Johnson neuroectodermal syndrome 721584005

SNOMED CT Concept 138875005
Clinical finding 404684003
Integumentary system finding 106077005
Disorder of integument 128598002
Hereditary disorder of the integument 363185004
Johnson neuroectodermal syndrome 721584005

SNOMED CT Concept 138875005
Clinical finding 404684003
Functional finding 118228005
Hearing finding 118230007
Decreased hearing 103276001
Congenital conductive hearing loss 737344003
Johnson neuroectodermal syndrome 721584005

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Developmental disorder 5294002
Congenital malformation 276654001
Congenital malformation syndrome 400038003
Multiple system malformation syndrome 82354003
Johnson neuroectodermal syndrome 721584005

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Disorder of embryonic structure 609521009
Congenital ectodermal defect 254154003
Ectodermal dysplasia 8654005
Johnson neuroectodermal syndrome 721584005

ancestors

sorted most to least specific

Autosomal dominant hereditary disorder 11164009
Auditory system hereditary disorder 362991006
Developmental hereditary disorder 363070008
Hereditary disorder of the integument 363185004
Congenital conductive hearing loss 737344003
Multiple system malformation syndrome 82354003
Ectodermal dysplasia 8654005
Autosomal hereditary disorder 1899006
Decreased hearing 103276001
Congenital malformation syndrome 400038003
Genodermatosis 239001006
Hereditary disorder by system 363137000
Congenital anomaly of ear with impairment of hearing 111339003
Conductive hearing loss 44057004
Congenital ectodermal defect 254154003
Hereditary disease 32895009
Congenital anomaly of skin 199879009
Hearing loss 15188001
Decline in functional status 154091000119106
Congenital malformation of ear 275259005
Congenital hearing disorder 95827002
Disorder of embryonic structure 609521009
Genetic disease 782964007
Congenital anomaly of integument 38164009
Hearing disorder 128540005
Disorder of skin 95320005
Disorder of ear 25906001
Congenital anomaly of head 87290003
Disorder of auditory system 362966006
Hearing finding 118230007
Congenital malformation 276654001
Skin finding 106076001
Disorder of head 118934005
Disorder of skin and/or subcutaneous tissue 80659006
Disorder of sensory organ 1279550006
Ear, nose and throat disorder 232208008
Ear finding 247234006
Ear and auditory finding 118236001
Disorder of integument 128598002
Functional finding 118228005
Developmental disorder 5294002
Congenital disease 66091009
Skin AND/OR mucosa finding 415531008
Ear, nose and throat finding 297268004
Disorder of soft tissue 19660004
Finding of head region 298364001
Integumentary system finding 106077005
Disorder of body system 362965005
Head finding 406122000
General finding of soft tissue 248402002
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

Johnson neuroectodermal syndrome 721584005

SNOMED CT code