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X-gebonden syndroom van microcefalie, groeiretardatie, prognathie en cryptorchisme (aandoening)
X-gebonden syndroom van microcefalie, groeiretardatie, prognathie en cryptorchisme
X-gebonden syndroom van microcefalie, groeivertraging, prognathie en niet-ingedaalde testis
X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome
X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome is a rare syndromic intellectual disability characterized by hypotonia, microcephaly, severe developmental delay, seizures, intellectual disability, growth retardation, cardiac septal defects, cryptorchidism, hypospadias, and dysmorphic features - prominent ears, prognathism, thin upper lip, dental crowding.
Id1197588008
StatusPrimitive
Associated morphologyprotrusie
Finding sitebotstructuur van kaak
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyafwijkend klein
Finding sitestructuur van hoofd
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Has interpretationgestoord
Interpretsintellectueel vermogen
Has interpretationgestoord
InterpretsAdaptation behavior
SNOMED CT to Orphanet simple map435938
SNOMED CT to ICD-10 extended map
TargetQ87.8
RuleTRUE
AdviceALWAYS Q87.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified