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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.
Id725030006
StatusPrimitive
Associated morphologyafwijkende vorm
Finding sitebotstructuur van cranium
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologypremature fusie
Finding sitestructuur van sutura sagittalis
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ87.0
TermCongenitale gestoorde-ontwikkelingssyndromen waarbij voornamelijk aangezicht is aangedaan
SNOMED CT to Orphanet simple map168624
SNOMED CT to ICD-10 extended map
TargetQ87.0
RuleTRUE
AdviceALWAYS Q87.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified