Joubert syndrome with orofaciodigital defect 721873007

SNOMED CT code

SNOMED code

721873007

name

Joubert syndrome with orofaciodigital defect

status

active

date introduced

2017-01-31

fully specified name(s)

Joubert syndrome with orofaciodigital defect (disorder)

synonyms

Joubert syndrome with orofaciodigital defect
Joubert syndrome with oro-facial-digital syndrome
Orofaciodigital syndrome type 6
Varadi Papp syndrome
Varadi syndrome

attributes - group3

Pathological process

Pathological developmental process 308490002

Associated morphology

Morphologically abnormal structure 49755003

Finding site

Face structure 89545001

Occurrence

Congenital 255399007

attributes - group4

Associated morphology

Morphologically abnormal structure 49755003

Pathological process

Pathological developmental process 308490002

Occurrence

Congenital 255399007

Finding site

Digit structure 82680008

attributes - group1

Pathological process

Pathological developmental process 308490002

Associated morphology

Aplasia 45486003

Finding site

Cerebellar vermis structure 58501004

Occurrence

Congenital 255399007

attributes - group5

Associated morphology

Morphologically abnormal structure 49755003

Pathological process

Pathological developmental process 308490002

Occurrence

Congenital 255399007

Finding site

Skin structure 39937001

attributes - group2

Pathological process

Pathological developmental process 308490002

Associated morphology

Morphologically abnormal structure 49755003

Occurrence

Congenital 255399007

Finding site

Structure of internal part of mouth 700016008

attributes - group6

Pathological process

Pathological developmental process 308490002

Associated morphology

Dysplasia 25723000

Occurrence

Congenital 255399007

Finding site

Ectoderm structure 63206006

parents

Digestive system hereditary disorder 363080007
Hereditary disorder of the integument 363185004
Oral-facial-digital syndrome 52868006
Joubert syndrome 716997004

hierarchies

a selection of possible paths

SNOMED CT Concept 138875005
Clinical finding 404684003
Digestive system finding 386617003
Disorder of digestive system 53619000
Digestive system hereditary disorder 363080007
Joubert syndrome with orofaciodigital defect 721873007

SNOMED CT Concept 138875005
Clinical finding 404684003
Integumentary system finding 106077005
Disorder of integument 128598002
Hereditary disorder of the integument 363185004
Joubert syndrome with orofaciodigital defect 721873007

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Genetic disease 782964007
Oral-facial-digital syndrome 52868006
Joubert syndrome with orofaciodigital defect 721873007

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Developmental disorder 5294002
Developmental hereditary disorder 363070008
Joubert syndrome 716997004
Joubert syndrome with orofaciodigital defect 721873007

ancestors

sorted most to least specific

Digestive system hereditary disorder 363080007
Hereditary disorder of the integument 363185004
Oral-facial-digital syndrome 52868006
Joubert syndrome 716997004
Multiple malformation syndrome with facial-limb defects as major feature 23359005
Familial aplasia of the vermis 253175003
Congenital abnormality of oral cavity 282041002
Congenital anomaly of digit 403855001
Ectodermal dysplasia 8654005
Developmental hereditary disorder 363070008
Hereditary disorder of nervous system 363235000
Autosomal recessive hereditary disorder 85995004
Hereditary disorder by system 363137000
Multiple malformation syndrome with limb defect as major feature 41443008
Aplasia of the vermis 253174004
Oral cavity finding 116337000
Disorder of digit 128597007
Genodermatosis 239001006
Congenital anomaly of limb 60475009
Multiple malformation syndrome with facial defects as major feature 65094009
Autosomal hereditary disorder 1899006
Congenital anomaly of mouth 128334002
Congenital ectodermal defect 254154003
Hereditary disease 32895009
Multiple system malformation syndrome 82354003
Aplasia of cerebellum 204049003
Disorder of limb 128605003
Congenital anomaly of skin 199879009
Congenital anomaly of face 398302004
Absence of the vermis 253177006
Disease of mouth 118938008
Congenital malformation of upper alimentary tract 275262008
Disorder of embryonic structure 609521009
Genetic disease 782964007
Congenital malformation syndrome 400038003
Dysgenesis of the cerebellum 253171007
Finding of mouth region 423066003
Finding of limb structure 302293008
Congenital anomaly of integument 38164009
Disorder of face 118930001
Congenital absence of part of brain 26595007
Congenital brain aplasia 702611008
Disorder of skin 95320005
Disorder of upper digestive tract 50410009
Congenital anomaly of digestive tract 95470009
Cerebellar disorder 223176004
Anencephalus 89369001
Skin finding 106076001
Finding of face 301310005
Disorder of digestive tract 84410009
Disorder of skin and/or subcutaneous tissue 80659006
Congenital anomaly of digestive system 69518005
Disorder of integument 128598002
Disorder of digestive system 53619000
Finding of head region 298364001
Congenital anomaly of brain 57148006
Amyelencephalus 75076004
Skin AND/OR mucosa finding 415531008
Disorder of soft tissue 19660004
Integumentary system finding 106077005
Disorder of brain 81308009
Congenital anomaly of central nervous system 128124001
Digestive system finding 386617003
Congenital anomaly of head 87290003
General finding of soft tissue 248402002
Disorder of head 118934005
Disorder of the central nervous system 23853001
Finding of brain 299718000
Congenital anomaly of nervous system 88425004
Congenital malformation 276654001
Head finding 406122000
Disorder of nervous system 118940003
Central nervous system finding 246556002
Developmental disorder 5294002
Finding of head and neck region 118254002
Disorder of body system 362965005
Congenital disease 66091009
Disease 64572001
Clinical finding 404684003
SNOMED CT Concept 138875005

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SNOMED CT Concept 138875005

Clinical finding 404684003

Digestive system finding 386617003

Disorder of digestive system 53619000

Digestive system hereditary disorder 363080007

Joubert syndrome with orofaciodigital defect 721873007

SNOMED CT code