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. |
| Id | 734173003 | Status | Primitive |
DHD Diagnosis thesaurus reference set |
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | Target | Q82.8 | Term | Overige gespecificeerde congenitale misvormingen van huid |
Target | Q75.0 | Term | Craniosynostose |
Target | Q56.4 | Term | Onbepaald geslacht, niet gespecificeerd |
Target | F79.9 | Term | Niet gespecificeerde zwakzinnigheid; Zonder vermelding van gedragsstoornissen |
|
SNOMED CT to Orphanet simple map | 3134 |
SNOMED CT to ICD-10 extended map | Target | Q87.5 | Rule | TRUE | Advice | ALWAYS Q87.5 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | Correlation | SNOMED CT source code to target map code correlation not specified |
|
|