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X-gebonden syndroom van verstandelijke beperking en plagiocefalie (aandoening)
X-gebonden syndroom van verstandelijke beperking en plagiocefalie
syndroom van Hyde Forster-McCarthy-Berry
X-gebonden syndroom van mentale retardatie en plagiocefalie
X-gebonden syndroom van verstandelijke handicap en plagiocefalie
X-linked intellectual disability with plagiocephaly syndrome
Hyde Forster McCarthy Berry syndrome
A rare, syndromic intellectual disability characterized by severe intellectual deficit, brachycephaly, plagiocephaly, and prominent forehead in male patients. Females may display moderate intellectual deficit without craniofacial dysmorphism. There have been no further descriptions in the literature since 1992.
Id719812008
StatusPrimitive
Associated morphologydeformiteit
Finding sitebotstructuur van cranium
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Has interpretationgestoord
Interpretsintellectueel vermogen
Has interpretationgestoord
InterpretsAdaptation behavior
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 map2898
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