|||||||||
syndroom van skeletafwijking, cutis laxa, craniosynostose, ambigue geslachtsorganen, retardatie en afwijking van aangezicht (aandoening)
syndroom van skeletafwijking, cutis laxa, craniosynostose, ambigue geslachtsorganen, retardatie en afwijking van aangezicht
SCARF-syndroom
syndroom van skeletafwijking, cutis laxa, craniosynostose, ambigue genitaliƫn, retardatie en afwijking van aangezicht
SCARF syndrome
Skeletal abnormality, cutis laxa, craniostenosis, ambiguous genitalia, retardation, facial abnormality syndrome
SCARF (skeletal abnormality, cutis laxa, craniostenosis, ambiguous genitalia, retardation, facial abnormality) syndrome
Syndrome with the association of skeletal abnormalities, cutis laxa, craniostenosis, ambiguous genitalia, psychomotor retardation and facial abnormalities. So far, it has been described in two males (maternal first cousins). The mode of inheritance was suggested to be X-linked recessive.
Id734173003
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
TargetQ82.8
TermOverige gespecificeerde congenitale misvormingen van huid
TargetQ75.0
TermCraniosynostose
TargetQ56.4
TermOnbepaald geslacht, niet gespecificeerd
TargetF79.9
TermNiet gespecificeerde zwakzinnigheid; Zonder vermelding van gedragsstoornissen
SNOMED CT to Orphanet simple map3134
SNOMED CT to ICD-10 extended map
TargetQ82.8
RuleTRUE
AdviceALWAYS Q82.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified
TargetQ75.0
RuleTRUE
AdviceALWAYS Q75.0
CorrelationSNOMED CT source code to target map code correlation not specified
TargetQ56.4
RuleTRUE
AdviceALWAYS Q56.4
CorrelationSNOMED CT source code to target map code correlation not specified
TargetF79.9
RuleTRUE
AdviceALWAYS F79.9
CorrelationSNOMED CT source code to target map code correlation not specified