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syndroom van ichtyose, verstandelijke beperking, dwerggroei en nierfunctiestoornis (aandoening)
syndroom van ichtyose, verstandelijke beperking, dwerggroei en nierfunctiestoornis
syndroom van ichtyose, verstandelijke handicap, dwerggroei en nierfunctiestoornis
syndroom van ichtyose, mentale retardatie, dwerggroei en nierfunctiestoornis
syndroom van Passwell-Goodman-Siprkowski
Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome
Passwell Goodman Siprkowski syndrome
Syndrome with characteristics of nonbullous congenital ichthyosis, intellectual deficit, dwarfism and renal impairment. It has been described in four members of one Iranian family. Transmission is autosomal recessive.
Id733097003
StatusPrimitive
Associated morphologyhyperkeratose
Finding sitegehele huid
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Has interpretationgestoord
Interpretsnierfunctie
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
TargetQ80.9
TermCongenitale ichthyose, niet gespecificeerd
TargetF79.9
TermNiet gespecificeerde zwakzinnigheid; Zonder vermelding van gedragsstoornissen
TargetE34.3
TermKleine gestalte, niet elders geclassificeerd
TargetN19
TermNiet gespecificeerde nierinsufficiƫntie
SNOMED CT to Orphanet simple map2278
SNOMED CT to ICD-10 extended map
TargetQ80.8
RuleTRUE
AdviceALWAYS Q80.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified
TargetE34.3
RuleTRUE
AdviceALWAYS E34.3
CorrelationSNOMED CT source code to target map code correlation not specified
TargetN19
RuleTRUE
AdviceALWAYS N19
CorrelationSNOMED CT source code to target map code correlation not specified