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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
A rare developmental defect during embryogenesis characterized by premature closure of metopic sutures and/or other sutures, short stature, and developmental delay. Dysmorphic features include trigonocephaly, metopic ridge, narrow forehead, bitemporal narrowing, arched eyebrows, hypotelorism, deep-set eyes, epicanthal folds, strabismus, wide nasal bridge, small pointed nose, anteverted nostrils, long philtrum, low-set ears, malar flattening, narrow mouth, thin lips, high-arched palate, crowded teeth, and micrognathia. Variable additional manifestations may include conductive hearing loss, cerebral (mainly involving the white matter), skeletal (e.g. brachymesophalangy of the fifth fingers), cardiovascular and renal anomalies, inguinal hernia, hypospadias, and seizures.
Id733066002
StatusPrimitive
Associated morphologyafwijkende vorm
Finding sitestructuur van os frontale
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologypremature fusie
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