syndroom van familiaire scafocefalie McGillivray-type (aandoening) | | syndroom van familiaire scafocefalie McGillivray-type | | syndroom van scafocefalie, macrocefalie, maxillaire retrusie en verstandelijke handicap syndroom van scafocefalie, macrocefalie, maxillaire retrusie en mentale retardatie syndroom van scafocefalie, macrocefalie, maxillaire retrusie en verstandelijke beperking
| | Familial scaphocephaly syndrome McGillivray type | | Scaphocephaly, macrocephaly, maxillary retrusion, intellectual disability syndrome
| | Familial scaphocephaly syndrome, McGillivray type is a rare newly described craniosynostosis syndrome characterized by scaphocephaly, macrocephaly, severe maxillary retrusion, and mild intellectual disability. |
| Id | 725030006 | Status | Primitive |
DHD Diagnosis thesaurus reference set |
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | Target | Q87.0 | Term | Congenitale gestoorde-ontwikkelingssyndromen waarbij voornamelijk aangezicht is aangedaan |
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SNOMED CT to Orphanet simple map | 168624 |
SNOMED CT to ICD-10 extended map | Target | Q87.0 | Rule | TRUE | Advice | ALWAYS Q87.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | Correlation | SNOMED CT source code to target map code correlation not specified |
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