Joubert syndrome with congenital hepatic fibrosis 721847002

SNOMED CT code

SNOMED code

721847002

name

Joubert syndrome with congenital hepatic fibrosis

status

active

date introduced

2017-01-31

fully specified name(s)

Joubert syndrome with congenital hepatic fibrosis (disorder)

synonyms

Joubert syndrome with hepatic defect
Joubert syndrome with congenital hepatic fibrosis
Cerebellar vermis hypoplasia, oligophrenia, congenital ataxia, coloboma, hepatic fibrosis
COACH syndrome
Gentile syndrome
COACH (cerebellar vermis hypoplasia, oligophrenia, congenital ataxia, coloboma, hepatic fibrosis) syndrome

attributes - group2

Pathological process

Pathological developmental process 308490002

Occurrence

Congenital 255399007

Associated morphology

Fibrosis 112674009

Finding site

Liver structure 10200004

attributes - group1

Finding site

Cerebellar vermis structure 58501004

Associated morphology

Aplasia 45486003

Pathological process

Pathological developmental process 308490002

Occurrence

Congenital 255399007

parents

Digestive system hereditary disorder 363080007
Joubert syndrome 716997004
Congenital hepatic fibrosis 79607001

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 congenital hepatic fibrosis 721847002

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Developmental disorder 5294002
Developmental hereditary disorder 363070008
Joubert syndrome 716997004
Joubert syndrome with congenital hepatic fibrosis 721847002

SNOMED CT Concept 138875005
Clinical finding 404684003
Digestive system finding 386617003
Liver finding 249565005
Disease of liver 235856003
Congenital anomaly of liver 89166001
Congenital hepatic fibrosis 79607001
Joubert syndrome with congenital hepatic fibrosis 721847002

ancestors

sorted most to least specific

Digestive system hereditary disorder 363080007
Joubert syndrome 716997004
Congenital hepatic fibrosis 79607001
Familial aplasia of the vermis 253175003
Hepatic fibrosis 62484002
Developmental hereditary disorder 363070008
Hereditary disorder of nervous system 363235000
Autosomal recessive hereditary disorder 85995004
Congenital anomaly of liver 89166001
Hereditary disorder by system 363137000
Aplasia of the vermis 253174004
Lesion of liver 300331000
Autosomal hereditary disorder 1899006
Congenital abnormality of liver and/or biliary tract 268213006
Hereditary disease 32895009
Aplasia of cerebellum 204049003
Disease of liver 235856003
Absence of the vermis 253177006
Congenital anomaly of digestive organ 128332003
Congenital anomaly of abdomen 363024001
Genetic disease 782964007
Dysgenesis of the cerebellum 253171007
Disorder of liver and/or biliary tract 1290917001
Congenital absence of part of brain 26595007
Congenital brain aplasia 702611008
Liver finding 249565005
Congenital anomaly of digestive system 69518005
Congenital anomaly of lower trunk 363030001
Cerebellar disorder 223176004
Disorder of abdomen 118948005
Anencephalus 89369001
Abdominal organ finding 249561001
Disorder of digestive organ 76712006
Congenital abnormality of lower limb and pelvic girdle 253937004
Congenital anomaly of trunk 78626001
Finding of abdomen 609624008
Disorder of digestive system 53619000
Congenital anomaly of brain 57148006
Viscus structure finding 406123005
Disorder of abdominopelvic segment of trunk 822988000
Amyelencephalus 75076004
Disorder of brain 81308009
Finding of abdominopelvic segment of trunk 822987005
Congenital anomaly of central nervous system 128124001
Disorder of trunk 128121009
Digestive system finding 386617003
Congenital anomaly of head 87290003
Disorder of head 118934005
Finding of trunk structure 302292003
Disorder of the central nervous system 23853001
Finding of brain 299718000
Congenital anomaly of nervous system 88425004
Head finding 406122000
Disorder of nervous system 118940003
Central nervous system finding 246556002
Congenital malformation 276654001
Finding of head and neck region 118254002
Disorder of body system 362965005
Developmental disorder 5294002
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 congenital hepatic fibrosis 721847002

SNOMED CT code