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Curry-Jones-syndroom (aandoening)
Curry-Jones-syndroom
syndroom van Curry-Jones
syndroom van agenesie van corpus callosum met polysyndactylie
Curry Jones syndrome
Agenesis of corpus callosum with polysyndactyly syndrome
A form of syndromic craniosynostosis with characteristics of unilateral coronal craniosynostosis or multiple suture synostosis associated with complete or partial agenesis of the corpus callosum, preaxial polysyndactyly and syndactyly of hands and/or feet, along with anomalies of the skin, eyes and intestine. Developmental delay and variable degrees of intellectual disability may also be observed. Multiple intra-abdominal smooth muscle hamartomas, trichoblastoma of the skin, occipital meningocele and development of desmoplastic medulloblastoma have been reported.
Id720819006
StatusPrimitive
Associated morphologypremature fusie
Finding sitestructuur van sutura cranii
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyaplasia
Finding sitestructuur van corpus callosum
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
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 map1553
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