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syndroom van trigonocefalie, kleine gestalte en ontwikkelingsachterstand (aandoening)
syndroom van trigonocefalie, kleine gestalte en ontwikkelingsachterstand
syndroom van Say-Meyer
Trigonocephaly, short stature, developmental delay syndrome
Say Meyer syndrome
Syndrome with characteristics of short stature, trigonocephaly and developmental delay. It has been described in three males. Moderate intellectual deficit was reported in one of the males and the other two patients displayed psychomotor retardation. X-linked transmission has been suggested but autosomal recessive inheritance cannot be ruled out.
Id733066002
StatusPrimitive
Associated morphologyafwijkende vorm
Finding sitestructuur van os frontale
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyPremature fusion
Finding sitestructuur van sutura frontalis
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 map3369
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