Ehlers-Danlos syndrome kyphoscoliotic and deafness type 720859009

SNOMED CT code

SNOMED code

720859009

name

Ehlers-Danlos syndrome kyphoscoliotic and deafness type

status

active

date introduced

2017-01-31

fully specified name(s)

Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)

synonyms

Ehlers-Danlos syndrome kyphoscoliotic and deafness type
Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and deafness
Ehlers-Danlos syndrome kyphoscoliotic and hearing loss type
Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency

attributes - group3

Occurrence

Congenital 255399007

Pathological process

Pathological developmental process 308490002

Finding site

Bone structure 272673000

Associated morphology

Dysplasia 25723000

attributes - group2

Occurrence

Congenital 255399007

Pathological process

Pathological developmental process 308490002

Finding site

Skin structure 39937001

Associated morphology

Dysplasia 25723000

attributes - group1

Finding site

Musculoskeletal structure of spine 289959001

Occurrence

Congenital 255399007

Pathological process

Pathological developmental process 308490002

Associated morphology

Lateral abnormal curvature 31739005

attributes - group4

Finding site

Connective tissue structure 21793004

Associated morphology

Morphologically abnormal structure 49755003

Pathological process

Pathological developmental process 308490002

Occurrence

Congenital 255399007

attributes - group5

Finding site

Auditory structure 91159003

attributes - group6

Has interpretation

Impaired 260379002

Interprets

Hearing 47078008

attributes - group7

Finding site

Musculoskeletal structure of spine 289959001

Associated morphology

Anteroposterior abnormal curvature 61051007

Occurrence

Congenital 255399007

Pathological process

Pathological developmental process 308490002

parents

Hearing loss associated with syndrome 232333009
Auditory system hereditary disorder 362991006
Sensorineural hearing loss 60700002
Ehlers-Danlos syndrome kyphoscoliotic type 718211004

hierarchies

a selection of possible paths

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
Ehlers-Danlos syndrome kyphoscoliotic and deafness type 720859009

SNOMED CT Concept 138875005
Clinical finding 404684003
Ear and auditory finding 118236001
Disorder of auditory system 362966006
Auditory system hereditary disorder 362991006
Ehlers-Danlos syndrome kyphoscoliotic and deafness type 720859009

SNOMED CT Concept 138875005
Clinical finding 404684003
Functional finding 118228005
Hearing finding 118230007
Hearing disorder 128540005
Hearing loss 15188001
Sensorineural hearing loss 60700002
Ehlers-Danlos syndrome kyphoscoliotic and deafness type 720859009

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Disorder of connective tissue 105969002
Musculoskeletal and connective tissue disorder 312225001
Ehlers-Danlos syndrome 398114001
Ehlers-Danlos syndrome kyphoscoliotic type 718211004
Ehlers-Danlos syndrome kyphoscoliotic and deafness type 720859009

ancestors

sorted most to least specific

Hearing loss associated with syndrome 232333009
Auditory system hereditary disorder 362991006
Sensorineural hearing loss 60700002
Ehlers-Danlos syndrome kyphoscoliotic type 718211004
Hearing loss 15188001
Ehlers-Danlos syndrome 398114001
Congenital kyphoscoliosis 405772002
Autosomal recessive hereditary disorder 85995004
Hearing disorder 128540005
Skeletal dysplasia 105986008
Kyphoscoliosis deformity of spine 405773007
Autosomal hereditary disorder 1899006
Congenital anomaly of skin 199879009
Musculoskeletal and connective tissue disorder 312225001
Congenital connective tissue disorder 363039000
Connective tissue hereditary disorder 363045008
Developmental hereditary disorder 363070008
Hereditary disorder of the integument 363185004
Hereditary disorder of musculoskeletal system 363212003
Metabolic bone disease 50279003
Metabolic disease of collagen 73873008
Congenital anomaly of skeletal bone 8447006
Skin lesion 95324001
Congenital kyphosis 71311003
Hearing finding 118230007
Disorder of auditory system 362966006
Congenital anomaly of musculoskeletal system 73573004
Hereditary disorder by system 363137000
Scoliosis deformity of spine 298382003
Congenital anomaly of integument 38164009
Disorder of connective tissue 105969002
Metabolic disease 75934005
Disorder of bone development 371521007
Soft tissue lesion 239953001
Congenital deformity 276655000
Kyphosis deformity of spine 414564002
Disorder of skin 95320005
Lesion of skin and/or skin-associated mucous membrane 714974000
Congenital anomaly of vertebral region of back 699943005
Functional finding 118228005
Ear and auditory finding 118236001
Hereditary disease 32895009
Curvature of spine 64217002
Skin finding 106076001
Disorder of bone 76069003
Skin or mucosa lesion 247440002
Congenital anomaly of back 363025000
Disorder of skin and/or subcutaneous tissue 80659006
Congenital malformation 276654001
Genetic disease 782964007
Deformity of spine 298380006
Disorder of integument 128598002
Disorder of soft tissue 19660004
Disorder of skeletal system 88230002
Disorder of spinal region 410730009
Bone finding 118953000
Skin AND/OR mucosa finding 415531008
Developmental disorder 5294002
Finding of spinal region 298379008
Integumentary system finding 106077005
General finding of soft tissue 248402002
Disorder of musculoskeletal system 928000
Congenital disease 66091009
Deformity 417893002
Disorder of back 33308003
Disorder of body system 362965005
Finding of back 414252009
Musculoskeletal finding 106028002
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

Hearing disorder 128540005

Hearing loss 15188001

Hearing loss associated with syndrome 232333009

Ehlers-Danlos syndrome kyphoscoliotic and deafness type 720859009

SNOMED CT code