|||||||||
NPHP3-gerelateerd Meckel-achtig syndroom (aandoening)
NPHP3-gerelateerd Meckel-achtig syndroom
Meckel-achtig syndroom type 1
syndroom van Goldston
NPHP3-related Meckel-like syndrome
Renal, hepatic, pancreatic dysplasia, Dandy-Walker cysts syndrome
Meckel-like syndrome type 1
Goldston syndrome
Nephrocystin 3-related Meckel-like syndrome
NPHP3 (nephrocystin 3) related Meckel-like syndrome
Meckel syndrome type 7
A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.
Id773737004
StatusPrimitive
Associated morphologyfibrose
Finding sitestructuur van lever
Occurrencecongenitaal
Associated morphologypolycysteuze verandering
Finding sitestructuur van nier
Occurrencecongenitaal
referentieset met complexe 'mapping' naar ICD-10
TargetQ61.9
RuleTRUE
AdviceALWAYS Q61.9 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified