|||||||||
Skeletal abnormality, cutis laxa, craniostenosis, ambiguous genitalia, retardation, facial abnormality syndrome (disorder)
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.
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
Id734173003
StatusPrimitive
Finding siteSkin structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyMorphologically abnormal structure
Finding siteFace structure
OccurrenceCongenital
Pathological processPathological developmental process
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
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