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X-gebonden syndroom van colobomateuze microftalmie, microcefalie, verstandelijke beperking en kleine gestalte (aandoening)
X-gebonden syndroom van colobomateuze microftalmie, microcefalie, verstandelijke beperking en kleine gestalte
X-gebonden syndroom van colobomateuze microftalmie, microcefalie, verstandelijke handicap en kleine gestalte
X-gebonden syndroom van colobomateuze microftalmie, microcefalie, mentale retardatie en kleine gestalte
X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome
X-linked colobomatous microphthalmia, microcephaly, short stature, psychomotor retardation syndrome
A rare syndromic microphthalmia disorder with characteristics of microphthalmia with coloboma (which may involve the iris, ciliary body, choroid, retina and/or optic nerve), microcephaly, short stature and intellectual disability. Other eye abnormalities such as pendular nystagmus, esotropia and ptosis may also be present. Additional associated abnormalities include kyphoscoliosis, anteverted pinnae with minimal convolutions, diastema of the incisors and congenital pes varus.
Id771148008
StatusPrimitive
Associated morphologycongenitale kleinheid
Finding sitestructuur van encephalon
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologycongenitale kleinheid
Finding sitegeheel oog
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyfusiedefect
Finding sitestructuur van bulbus oculi
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetQ87.0
RuleTRUE
AdviceALWAYS Q87.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified