Multiple epiphyseal dysplasia Beighton type 719689005

SNOMED CT code

SNOMED code

719689005

name

Multiple epiphyseal dysplasia Beighton type

status

active

date introduced

2017-01-31

fully specified name(s)

Multiple epiphyseal dysplasia Beighton type (disorder)

synonyms

Multiple epiphyseal dysplasia Beighton type
Multiple epiphyseal dysplasia with myopia and deafness syndrome

attributes - group1

Pathological process

Pathological developmental process 308490002

Occurrence

Congenital 255399007

Finding site

Structure of epiphysis 43719000

Associated morphology

Dysplasia 25723000

attributes - group2

Clinical course

Progressive 255314001

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

attributes - group5

Interprets

Height / growth measure 271603002

parents

Autosomal dominant hereditary disorder 11164009
Chronic deafness 232325008
Auditory system hereditary disorder 362991006
Multiple epiphyseal dysplasia 59708000
Congenital conductive hearing loss 737344003

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
Multiple epiphyseal dysplasia Beighton type 719689005

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Chronic disease 27624003
Chronic disease of ear 128297008
Chronic deafness 232325008
Multiple epiphyseal dysplasia Beighton type 719689005

SNOMED CT Concept 138875005
Clinical finding 404684003
Ear and auditory finding 118236001
Disorder of auditory system 362966006
Auditory system hereditary disorder 362991006
Multiple epiphyseal dysplasia Beighton type 719689005

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Chronic disease 27624003
Chronic disease of musculoskeletal system 128237006
Epiphyseal dysplasia 254080004
Multiple epiphyseal dysplasia 59708000
Multiple epiphyseal dysplasia Beighton type 719689005

SNOMED CT Concept 138875005
Clinical finding 404684003
Functional finding 118228005
Hearing finding 118230007
Decreased hearing 103276001
Congenital conductive hearing loss 737344003
Multiple epiphyseal dysplasia Beighton type 719689005

ancestors

sorted most to least specific

Autosomal dominant hereditary disorder 11164009
Chronic deafness 232325008
Auditory system hereditary disorder 362991006
Multiple epiphyseal dysplasia 59708000
Congenital conductive hearing loss 737344003
Autosomal hereditary disorder 1899006
Chronic disease of ear 128297008
Epiphyseal dysplasia 254080004
Decreased hearing 103276001
Spondyloepiphyseal dysplasia tarda 51952004
Congenital anomaly of ear with impairment of hearing 111339003
Conductive hearing loss 44057004
Hearing loss 15188001
Osteochondrodysplasia syndrome 105985007
Chronic disease of musculoskeletal system 128237006
Disorder of epiphysis 240172008
Decline in functional status 154091000119106
Spondyloepimetaphyseal disorder 254062008
Developmental hereditary disorder 363070008
Hereditary disorder of musculoskeletal system 363212003
Congenital malformation of ear 275259005
Congenital hearing disorder 95827002
Disorder of ear 25906001
Hearing disorder 128540005
Chronic disease 27624003
Hereditary disorder by system 363137000
Multiple system malformation syndrome 82354003
Metaphyseal chondrodysplasia 28681006
Congenital anomaly of head 87290003
Hereditary disease 32895009
Disorder of head 118934005
Disorder of auditory system 362966006
Skeletal dysplasia 105986008
Hearing finding 118230007
Disorder of sensory organ 1279550006
Ear, nose and throat disorder 232208008
Ear finding 247234006
Congenital anomaly of skeletal bone 8447006
Congenital malformation syndromes associated with short stature 205808005
Genetic disease 782964007
Ear and auditory finding 118236001
Congenital anomaly of musculoskeletal system 73573004
Functional finding 118228005
Ear, nose and throat finding 297268004
Congenital malformation syndrome 400038003
Disorder of bone development 371521007
Finding of head region 298364001
Short stature disorder 237836003
Head finding 406122000
Congenital malformation 276654001
Disorder of bone 76069003
Disorder of stature 237834000
Finding of head and neck region 118254002
Developmental disorder 5294002
Bone finding 118953000
Disorder of skeletal system 88230002
Congenital disease 66091009
General finding of height 248327008
Finding of general physiological development 271616002
Disorder of musculoskeletal system 928000
Height / growth finding 365714001
Disorder of body system 362965005
Musculoskeletal finding 106028002
Body measurement finding 365605003
Disease 64572001
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

Multiple epiphyseal dysplasia Beighton type 719689005

SNOMED CT code