Autosomal recessive hereditary disorder
Café au lait spots
Disorder of head
Inherited cutaneous hyperpigmentation
Microcephaly
Short stature disorder
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Intrauterine growth restriction, congenital multiple café au lait macules, increased sister chromatid exchange syndrome (disorder)
Intrauterine growth restriction, congenital multiple café au lait macules, increased sister chromatid exchange syndrome
A rare genetic disease with characteristics of multiple café au lait macules and elevated rates of sister chromatid exchange demonstrated on cytogenetic testing. Pre and postnatal growth deficiency with short stature, microcephaly, mild developmental delay, cardiomyopathy and symptomatic gastro-esophageal reflux have also been described while malar rash is typically absent.
syndroom van intra-uteriene groeivertraging, meerdere congenitale café-au-laitvlekken en verhoogde zusterchromatide-uitwisseling
syndroom van intra-uteriene groeirestrictie, multipele congenitale café-au-laitvlekken en verhoogde zusterchromatide-uitwisseling
Id1177178005
StatusPrimitive
InterpretsHeight / growth measure
Finding siteHead structure
Has interpretationBelow reference range
InterpretsHead circumference
Associated morphologyHyperpigmentation
Finding siteSkin structure
OccurrenceCongenital
Pathological processPathological developmental process
ICD-10 complex map reference set
TargetQ87.1
RuleTRUE
AdviceALWAYS Q87.1 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified