Joubert syndrome with Jeune asphyxiating thoracic dystrophy 733418003

SNOMED CT code

SNOMED code

733418003

name

Joubert syndrome with Jeune asphyxiating thoracic dystrophy

status

active

date introduced

2017-07-31

fully specified name(s)

Joubert syndrome with Jeune asphyxiating thoracic dystrophy (disorder)

synonyms

Joubert syndrome with JATD (Jeune asphyxiating thoracic dystrophy)
Joubert syndrome with Jeune asphyxiating thoracic dystrophy

attributes - group1

Pathological process

Pathological developmental process 308490002

Occurrence

Congenital 255399007

Associated morphology

Abnormally short growth 11182007

Finding site

Entire limb 243996003

attributes - group2

Associated morphology

Aplasia 45486003

Pathological process

Pathological developmental process 308490002

Finding site

Cerebellar vermis structure 58501004

Occurrence

Congenital 255399007

attributes - group3

Pathological process

Pathological developmental process 308490002

Occurrence

Congenital 255399007

Finding site

Bone structure of rib 113197003

Associated morphology

Dysplasia 25723000

parents

Joubert syndrome 716997004
Jeune thoracic dystrophy 75049004

hierarchies

a selection of possible paths

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Developmental disorder 5294002
Developmental hereditary disorder 363070008
Joubert syndrome 716997004
Joubert syndrome with Jeune asphyxiating thoracic dystrophy 733418003

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Genetic disease 782964007
Short rib dysplasia 254050009
Jeune thoracic dystrophy 75049004
Joubert syndrome with Jeune asphyxiating thoracic dystrophy 733418003

ancestors

sorted most to least specific

Joubert syndrome 716997004
Jeune thoracic dystrophy 75049004
Familial aplasia of the vermis 253175003
Short rib dysplasia 254050009
Developmental hereditary disorder 363070008
Hereditary disorder of nervous system 363235000
Autosomal recessive hereditary disorder 85995004
Hereditary disorder of musculoskeletal system 363212003
Longitudinal deficiency of limb 67341007
Aplasia of the vermis 253174004
Skeletal dysplasia 105986008
Autosomal hereditary disorder 1899006
Hereditary disorder by system 363137000
Congenital deformity 276655000
Congenital anomaly of rib 123572006
Deformity of limb 445144002
Congenital anomaly of limb 60475009
Aplasia of cerebellum 204049003
Hereditary disease 32895009
Absence of the vermis 253177006
Congenital anomaly of body wall 363027008
Disorder of limb 128605003
Deformity 417893002
Congenital anomaly of skeletal bone 8447006
Congenital anomaly of thoracic cage 8649001
Dysgenesis of the cerebellum 253171007
Genetic disease 782964007
Congenital absence of part of brain 26595007
Congenital brain aplasia 702611008
Finding of limb structure 302293008
Disorder of bone development 371521007
Congenital anomaly of musculoskeletal structure of trunk 363032009
Disorder of body wall 399986003
Congenital anomaly of thorax 363035006
Cerebellar disorder 223176004
Congenital anomaly of musculoskeletal system 73573004
Anencephalus 89369001
Disorder of bone 76069003
Disorder of thorax 118946009
Congenital anomaly of upper trunk 363037003
Congenital anomaly of brain 57148006
Disorder of skeletal system 88230002
Amyelencephalus 75076004
Bone finding 118953000
Finding of region of thorax 298705000
Congenital anomaly of trunk 78626001
Disorder of thoracic segment of trunk 609622007
Disorder of brain 81308009
Congenital anomaly of central nervous system 128124001
Disorder of musculoskeletal system 928000
Congenital anomaly of head 87290003
Finding of upper trunk 609623002
Disorder of trunk 128121009
Disorder of head 118934005
Disorder of the central nervous system 23853001
Finding of brain 299718000
Musculoskeletal finding 106028002
Congenital anomaly of nervous system 88425004
Finding of trunk structure 302292003
Head finding 406122000
Congenital malformation 276654001
Disorder of nervous system 118940003
Central nervous system finding 246556002
Finding of head and neck region 118254002
Developmental disorder 5294002
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

Disease 64572001

Developmental disorder 5294002

Developmental hereditary disorder 363070008

Joubert syndrome 716997004

Joubert syndrome with Jeune asphyxiating thoracic dystrophy 733418003

SNOMED CT code