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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
X-gebonden lissencefalie-agenesie van corpus callosum-genitale afwijkingen-syndroom
XLAG
X-gebonden lissencefalie met ambigue genitalia
X-gebonden lissencefalie met genitale afwijkingen
X-gebonden lissencefalie met abnormale genitalia
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 rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by lissencephaly, agenesis of the corpus callosum and other cerebral structural anomalies, early-onset intractable seizures, and ambiguous genitalia. Consequences of hypothalamic dysfunction, such as disturbed temperature regulation, may be observed. Additional anomalies including dysmorphic craniofacial features have been reported. The disease is fatal in infancy or childhood in males, while female carriers may be unaffected or show a milder phenotype with developmental delay, behavioral abnormalities, and seizures.
Id717632002
StatusPrimitive
Associated morphologyagenesie
Finding sitegeheel corpus callosum
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
SNOMED CT to Orphanet simple map452
SNOMED CT to ICD-10 extended map
TargetQ04.0
RuleTRUE
AdviceALWAYS Q04.0 | 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
TargetQ56.4
RuleTRUE
AdviceALWAYS Q56.4
CorrelationSNOMED CT source code to target map code correlation not specified
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