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X-gebonden syndroom van verstandelijke beperking, hypogonadisme, ichtyose, obesitas en kleine gestalte (aandoening)
X-gebonden syndroom van verstandelijke beperking, hypogonadisme, ichtyose, obesitas en kleine gestalte
X-gebonden syndroom van mentale retardatie, hypogonadisme, ichtyose, obesitas en kleine gestalte
X-gebonden syndroom van verstandelijke handicap, hypogonadisme, ichtyose, obesitas en kleine gestalte
syndroom van Young-Hughes
X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome
Young Hughes syndrome
A rare X-linked intellectual disability syndrome with characteristics of intellectual disability associated with short stature, obesity, primary hypogonadism and an ichthyosiform skin condition. There have been no further descriptions in the literature since 1982.
Id765471005
StatusPrimitive
Associated morphologyhyperkeratose
Finding sitegehele huid
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Has interpretationafwijkend
Interpretskeratinisatie
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 map3055
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