Joubert syndrome with renal defect 716999001

SNOMED CT code

SNOMED code

716999001

name

Joubert syndrome with renal defect

status

active

date introduced

2016-07-31

fully specified name(s)

Joubert syndrome with renal defect (disorder)

synonyms

Joubert syndrome with renal defect

attributes - group1

Occurrence

Congenital 255399007

Pathological process

Pathological developmental process 308490002

Associated morphology

Aplasia 45486003

Finding site

Cerebellar vermis structure 58501004

attributes - group2

Finding site

Kidney structure 64033007

parents

Hereditary nephropathy 367591000119105
Joubert syndrome 716997004

hierarchies

a selection of possible paths

SNOMED CT Concept 138875005
Clinical finding 404684003
Viscus structure finding 406123005
Abdominal organ finding 249561001
Kidney finding 249578005
Kidney disease 90708001
Hereditary nephropathy 367591000119105
Joubert syndrome with renal defect 716999001

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Developmental disorder 5294002
Developmental hereditary disorder 363070008
Joubert syndrome 716997004
Joubert syndrome with renal defect 716999001

ancestors

sorted most to least specific

Hereditary nephropathy 367591000119105
Joubert syndrome 716997004
Hereditary disorder of the urinary system 363338001
Familial aplasia of the vermis 253175003
Kidney disease 90708001
Developmental hereditary disorder 363070008
Hereditary disorder of nervous system 363235000
Autosomal recessive hereditary disorder 85995004
Aplasia of the vermis 253174004
Kidney finding 249578005
Hereditary disorder by system 363137000
Autosomal hereditary disorder 1899006
Disorder of kidney and/or ureter 443820000
Disorder of retroperitoneum 734045002
Disorder of the urinary system 128606002
Aplasia of cerebellum 204049003
Hereditary disease 32895009
Absence of the vermis 253177006
Disorder of abdomen 118948005
Abdominal organ finding 249561001
Urinary system finding 106098005
Dysgenesis of the cerebellum 253171007
Genetic disease 782964007
Disorder of the genitourinary system 42030000
Congenital absence of part of brain 26595007
Congenital brain aplasia 702611008
Finding of abdomen 609624008
Viscus structure finding 406123005
Urogenital finding 118238000
Cerebellar disorder 223176004
Anencephalus 89369001
Disorder of abdominopelvic segment of trunk 822988000
Finding of abdominopelvic segment of trunk 822987005
Congenital anomaly of brain 57148006
Disorder of trunk 128121009
Amyelencephalus 75076004
Finding of trunk structure 302292003
Disorder of brain 81308009
Congenital anomaly of central nervous system 128124001
Congenital anomaly of head 87290003
Disorder of head 118934005
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

Viscus structure finding 406123005

Abdominal organ finding 249561001

Kidney finding 249578005

Kidney disease 90708001

Hereditary nephropathy 367591000119105

Joubert syndrome with renal defect 716999001

SNOMED CT code