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syndroom van permanente neonatale diabetes mellitus en cerebellaire agenesie (aandoening)
syndroom van permanente neonatale diabetes mellitus en cerebellaire agenesie
Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome
Pancreatic and cerebellar agenesis syndrome
This syndrome has characteristics of neonatal diabetes mellitus associated with cerebellar and/or pancreatic agenesis. It has been described in four patients: two sisters and their female cousin belonging to a consanguineous Pakistani family, and one unrelated case (also born to consanguineous parents). Patients also present with facial dysmorphism (a triangular face, small chin, low set ears), flexion contractures of the arms and legs, very little subcutaneous fat and optic nerve hypoplasia. One of the patients had pancreatic agenesis and the others were suspected of having pancreatic hypoplasia. The syndrome is transmitted as an autosomal recessive disorder. It is caused by mutations in the PTF1A gene (10p12.3). Prenatal diagnosis is possible by demonstration of the absence of the cerebellum and severe intra-uterine growth retardation. All patients died in the neonatal period.
Id724067006
StatusPrimitive
Associated morphologyagenesie
Finding sitegehele cerebellum
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetP70.2
RuleTRUE
AdviceALWAYS P70.2 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified
TargetQ04.3
RuleTRUE
AdviceALWAYS Q04.3
CorrelationSNOMED CT source code to target map code correlation not specified