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syndroom van X-gebonden lissencefalie met agenesie van corpus callosum en genitale afwijkingen (aandoening)
syndroom van X-gebonden lissencefalie met agenesie van corpus callosum en genitale afwijkingen
XLAG
X-gebonden lissencefalie met ambigue genitalia
X-gebonden lissencefalie met genitale afwijkingen
X-gebonden lissencefalie met abnormale genitalia
X-gebonden lissencefalie-agenesie van corpus callosum-genitale afwijkingen-syndroom
X-linked lissencephaly with abnormal genitalia syndrome
X-linked lissencephaly with ambiguous genitalia
X-linked lissencephaly with agenesis of corpus callosum and genital anomaly syndrome
A severe neurological disorder that only manifests in genotypic males and includes lissencephaly with posterior-to-anterior gradient and only moderate increase in thickness of the cortex, absent corpus callosum, neonatal-onset severe epilepsy, hypothalamic dysfunction including defective temperature regulation, and ambiguous genitalia with micropenis and cryptorchidism.
Id717632002
StatusPrimitive
Associated morphologyagenesie
Finding sitegeheel corpus callosum
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetQ04.3
RuleTRUE
AdviceALWAYS Q04.3
CorrelationSNOMED CT source code to target map code correlation not specified
TargetQ04.0
RuleTRUE
AdviceALWAYS Q04.0
CorrelationSNOMED CT source code to target map code correlation not specified
TargetQ52.9
RuleIFA 248152002 | Female (finding) |
AdviceIF FEMALE CHOOSE Q52.9 | MAP IS CONTEXT DEPENDENT FOR GENDER
CorrelationSNOMED CT source code to target map code correlation not specified
TargetQ55.9
RuleIFA 248153007 | Male (finding) |
AdviceIF MALE CHOOSE Q55.9 | MAP IS CONTEXT DEPENDENT FOR GENDER
CorrelationSNOMED CT source code to target map code correlation not specified
Target
RuleOTHERWISE TRUE
AdviceMAP SOURCE CONCEPT CANNOT BE CLASSIFIED WITH AVAILABLE DATA
CorrelationSNOMED CT source code to target map code correlation not specified