cerebellaire-vermis-agenesiesyndroom
congenitale fibrose van lever
hereditaire aandoening van spijsverteringsstelsel
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cerebellaire-vermis-agenesiesyndroom met congenitale leverfibrose (aandoening)
cerebellaire-vermis-agenesiesyndroom met congenitale leverfibrose
syndroom van Joubert met congenitale leverfibrose
joubertsyndroom met congenitale leverfibrose
Joubert syndrome with congenital hepatic fibrosis
COACH (cerebellar vermis hypoplasia, oligophrenia, congenital ataxia, coloboma, hepatic fibrosis) syndrome
Gentile syndrome
Joubert syndrome with hepatic defect
Cerebellar vermis hypoplasia, oligophrenia, congenital ataxia, coloboma, hepatic fibrosis
COACH syndrome
A very rare subtype of Joubert syndrome with the neurological features of Joubert Syndrome and congenital hepatic fibrosis. Prevalence is unknown. The age of onset and severity of hepatic manifestations are variable. Some patients may also present chorioretinal or optic nerve colobomas and nephronophthisis but these are not mandatory features. Over 70% of cases are due to mutations in the TMEM67 gene (8q22.1).
Id721847002
StatusPrimitive
Associated morphologyfibrose
Finding sitestructuur van lever
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyaplasia
Finding sitestructuur van vermis cerebelli
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ04.3
TermOverige onderontwikkeling van hersenen
TargetQ44.7
TermOverige congenitale misvormingen van lever
SNOMED CT to Orphanet simple map1454
SNOMED CT to ICD-10 extended map
TargetQ04.3
RuleTRUE
AdviceALWAYS Q04.3 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified
TargetQ44.7
RuleTRUE
AdviceALWAYS Q44.7
CorrelationSNOMED CT source code to target map code correlation not specified