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X-gebonden syndroom van verstandelijke beperking, epileptische aanvallen en psoriasis (aandoening)
X-gebonden syndroom van verstandelijke beperking, epileptische aanvallen en psoriasis
syndroom van Tranebjaerg-Svejgaard
X-gebonden syndroom van verstandelijke handicap, convulsies en psoriasis
X-gebonden syndroom van mentale retardatie, insulten en psoriasis
X-linked intellectual disability with seizure and psoriasis syndrome
Tranebjaerg Svejgaard syndrome
A rare, X-linked syndromic intellectual disability disorder characterized by severe intellectual disability, psychomotor developmental delay, generalized seizures, and psoriasis. Mild craniofacial dysmorphism, such as hypertelorism, broad nasal bridge, anteverted nares, macrostomia, highly arched palate and large ears, is also associated. There have been no further descriptions in the literature since 1988.
Id719810000
StatusPrimitive
Finding sitestructuur van huid
Pathological processproces van overgevoeligheid
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 map3052
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