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syndroom van X-gebonden centronucleaire myopathie en afwijkend geslachtsorgaan (aandoening)
syndroom van X-gebonden centronucleaire myopathie en afwijkend geslachtsorgaan
syndroom van X-gebonden myotubulaire myopathie en abnormale genitaliën
Xq28-'contiguous gene deletion'-syndroom
syndroom van X-gebonden myotubulaire myopathie en genitale afwijkingen
X-linked myotubular myopathy, abnormal genitalia syndrome
Xq28 contiguous gene deletion syndrome
X-linked myotubular myopathy-abnormal genitalia syndrome is a rare chromosomal anomaly, partial deletion of the long arm of chromosome X, characterized by a combination of clinical manifestations of X-linked myotubular myopathy and a 46,XY disorder of sex development. Patients present with severe form of congenital myopathy and abnormal male genitalia.
Id1255278004
StatusPrimitive
Associated morphologypartiële deletie
Finding sitestructuur van X-chromosoom
Occurrencecongenitaal
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ99.8
TermOverige gespecificeerde chromosoomafwijkingen
SNOMED CT to Orphanet simple map456328
SNOMED CT to ICD-10 extended map
TargetG71.2
RuleTRUE
AdviceALWAYS G71.2 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified