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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, mentale retardatie en kleine gestalte
X-gebonden syndroom van colobomateuze microftalmie, microcefalie, verstandelijke handicap 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 sitegeheel oog
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyfusiedefect
Finding sitestructuur van bulbus oculi
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Has interpretationgestoord
Interpretsintellectueel vermogen
Has interpretationgestoord
InterpretsAdaptation behavior
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ87.0
TermCongenitale gestoorde-ontwikkelingssyndromen waarbij voornamelijk aangezicht is aangedaan
SNOMED CT to Orphanet simple map431140
SNOMED CT to ICD-10 extended map
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