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
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| Id | 734173003 | Status | Primitive |
DHD Diagnosis thesaurus reference set |
ICD-10 complex map reference set | Target | Q82.8 | Rule | TRUE | Advice | ALWAYS Q82.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | Correlation | SNOMED CT source code to target map code correlation not specified |
Target | Q75.0 | Rule | TRUE | Advice | ALWAYS Q75.0 | Correlation | SNOMED CT source code to target map code correlation not specified |
Target | Q56.4 | Rule | TRUE | Advice | ALWAYS Q56.4 | Correlation | SNOMED CT source code to target map code correlation not specified |
Target | F79.9 | Rule | TRUE | Advice | ALWAYS F79.9 | Correlation | SNOMED CT source code to target map code correlation not specified |
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