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syndroom van verstandelijke beperking, myopathie, kleine gestalte en endocriene stoornis (aandoening)
syndroom van verstandelijke beperking, myopathie, kleine gestalte en endocriene stoornis
syndroom van verstandelijke handicap, myopathie, kleine gestalte en endocriene stoornis
syndroom van Chudley-Rozdilsky
syndroom van mentale retardatie, myopathie, kleine gestalte en endocriene stoornis
Intellectual disability, myopathy, short stature, endocrine defect syndrome
Chudley Rozdilsky syndrome
A rare congenital myopathy syndrome characterized by nonprogressive myopathy (manifesting with mild facial and generalized weakness, bilateral ptosis, and severe lumbar lordosis), severe intellectual disability, short stature, and sexual infantilism (due to hypogonadotropic hypogonadism). The presence of a small pituitary fossa was also noted. There have been no further descriptions in the literature since 1985.
Id764959000
StatusPrimitive
Has interpretationgestoord
Interpretsintellectueel vermogen
Has interpretationgestoord
InterpretsAdaptation behavior
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ87.8
TermOverige gespecificeerde congenitale gestoorde-ontwikkelingssyndromen, niet elders geclassificeerd
SNOMED CT to Orphanet simple map3068
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