External auditory canal atresia, vertical talus, hypertelorism syndrome 783774006

SNOMED CT code

SNOMED code

783774006

name

External auditory canal atresia, vertical talus, hypertelorism syndrome

status

active

date introduced

2019-07-31

fully specified name(s)

External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder)

synonyms

External auditory canal atresia, vertical talus, hypertelorism syndrome
Rasmussen Johnsen Thomsen syndrome

attributes - group3

Associated morphology

Congenital atresia 56457002

Occurrence

Congenital 255399007

Finding site

External auditory canal structure 84301002

Pathological process

Pathological developmental process 308490002

attributes - group2

Pathological process

Pathological developmental process 308490002

Associated morphology

Morphologically abnormal structure 49755003

Finding site

Sphenoid bone structure 73117003

Occurrence

Congenital 255399007

attributes - group1

Occurrence

Congenital 255399007

Pathological process

Pathological developmental process 308490002

Finding site

Foot structure 56459004

Associated morphology

Valgus deformity 127561000

attributes - group4

Occurrence

Congenital 255399007

Pathological process

Pathological developmental process 308490002

Finding site

Ankle region structure 344001

Associated morphology

Deformity 6081001

attributes - group5

Associated morphology

Dorsal dislocation 833308005

Finding site

Structure of talonavicular joint 127864001

Pathological process

Pathological developmental process 308490002

Occurrence

Congenital 255399007

attributes - group6

Finding site

Structure of longitudinal arch of foot 86509003

Associated morphology

Flattening deformity 20601007

Occurrence

Congenital 255399007

Pathological process

Pathological developmental process 308490002

parents

Autosomal dominant hereditary disorder 11164009
Congenital vertical talus 205082007
Hypertelorism 22006008
Congenital anomaly of bone and joint 237513002
Auditory system hereditary disorder 362991006
Developmental hereditary disorder 363070008
Hereditary disorder of musculoskeletal system 363212003
Multiple malformation syndrome with limb defect as major feature 41443008
Congenital atresia of external auditory canal 75355004

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
External auditory canal atresia, vertical talus, hypertelorism syndrome 783774006

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Disorder of joint region 785875003
Disorder of ankle 128138008
Congenital deformity of foot and ankle 253955008
Congenital vertical talus 205082007
External auditory canal atresia, vertical talus, hypertelorism syndrome 783774006

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Disorder of head 118934005
Disorder of skull 118945008
Congenital anomaly of skull 51655004
Hypertelorism 22006008
External auditory canal atresia, vertical talus, hypertelorism syndrome 783774006

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Developmental disorder 5294002
Disorder of bone development 371521007
Congenital anomaly of skeletal bone 8447006
Congenital anomaly of bone and joint 237513002
External auditory canal atresia, vertical talus, hypertelorism syndrome 783774006

SNOMED CT Concept 138875005
Clinical finding 404684003
Ear and auditory finding 118236001
Disorder of auditory system 362966006
Auditory system hereditary disorder 362991006
External auditory canal atresia, vertical talus, hypertelorism syndrome 783774006

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Developmental disorder 5294002
Developmental hereditary disorder 363070008
External auditory canal atresia, vertical talus, hypertelorism syndrome 783774006

SNOMED CT Concept 138875005
Clinical finding 404684003
Musculoskeletal finding 106028002
Disorder of musculoskeletal system 928000
Hereditary disorder of musculoskeletal system 363212003
External auditory canal atresia, vertical talus, hypertelorism syndrome 783774006

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Developmental disorder 5294002
Congenital malformation 276654001
Congenital malformation syndrome 400038003
Multiple system malformation syndrome 82354003
Multiple malformation syndrome with limb defect as major feature 41443008
External auditory canal atresia, vertical talus, hypertelorism syndrome 783774006

SNOMED CT Concept 138875005
Clinical finding 404684003
Ear and auditory finding 118236001
Ear finding 247234006
External ear finding 300083003
Ear canal finding 247247001
Lesion of ear canal 300130009
Congenital atresia of external auditory canal 75355004
External auditory canal atresia, vertical talus, hypertelorism syndrome 783774006

ancestors

sorted most to least specific

Autosomal dominant hereditary disorder 11164009
Congenital vertical talus 205082007
Hypertelorism 22006008
Congenital anomaly of bone and joint 237513002
Auditory system hereditary disorder 362991006
Developmental hereditary disorder 363070008
Hereditary disorder of musculoskeletal system 363212003
Multiple malformation syndrome with limb defect as major feature 41443008
Congenital atresia of external auditory canal 75355004
Autosomal hereditary disorder 1899006
Rigid flat foot 203532008
Congenital anomaly of skull 51655004
Hereditary disorder by system 363137000
Multiple system malformation syndrome 82354003
Congenital abnormality of external ear 282038006
Congenital valgus deformity of foot 22099008
Congenital pes planus 23407003
Persistent dislocation of joint 239754004
Congenital deformity of foot and ankle 253955008
Talipes valgus 79807003
Dislocation of joint of foot 836424002
Congenital dislocation of joint 890410005
Lesion of ear canal 300130009
Hereditary disease 32895009
Pes planus 53226007
Disorder of skull 118945008
Congenital malformation syndrome 400038003
Congenital malformation of ear 275259005
Congenital deformity of foot 302297009
Dislocation of joint of lower limb 263028004
Congenital abnormality of skull and face bones 268239009
Congenital anomaly of joint 95463009
Ear canal finding 247247001
Angulation deformity of lower limb 609381007
Disorder of joint of foot 428339009
Lesion of external ear 300092000
Genetic disease 782964007
Talipes 398309008
Congenital anomaly of skeletal bone 8447006
Congenital deformity of lower limb 1230024004
Dislocation of joint 108367008
Skull finding 248369007
Disorder of external ear 49130001
Congenital anomaly of head 87290003
Congenital anomaly of foot 253966001
Ear lesion 33391000119104
Foot joint finding 299479004
Disorder of joint of ankle and/or foot 442246002
Disorder of foot 118932009
Disorder of bone development 371521007
Disorder of ear 25906001
Congenital deformity 276655000
Arthropathy 399269003
Disorder of ankle 128138008
Deformity of foot 229844004
Congenital anomaly of musculoskeletal system 73573004
External ear finding 300083003
Congenital anomaly of lower limb 84773003
Finding of foot region 116316008
Disorder of head 118934005
Disorder of auditory system 362966006
Joint finding 118952005
Finding of ankle region 116315007
Disorder of free lower limb 700012005
Disorder of bone 76069003
Ear finding 247234006
Disorder of sensory organ 1279550006
Ear, nose and throat disorder 232208008
Deformity of lower limb 449715001
Disorder of joint region 785875003
Congenital abnormality of lower limb and pelvic girdle 253937004
Congenital anomaly of limb 60475009
Finding of ankle or foot 419518009
Ear and auditory finding 118236001
Congenital malformation 276654001
Disorder of lower limb 118937003
Bone finding 118953000
Ear, nose and throat finding 297268004
Disorder of skeletal system 88230002
Finding of head region 298364001
Deformity of limb 445144002
Finding of lower limb 116312005
Head finding 406122000
Developmental disorder 5294002
Disorder of musculoskeletal system 928000
Congenital disease 66091009
Deformity 417893002
Disorder of limb 128605003
Finding of limb structure 302293008
Finding of head and neck region 118254002
Musculoskeletal finding 106028002
Disorder of body system 362965005
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

External auditory canal atresia, vertical talus, hypertelorism syndrome 783774006

SNOMED CT code