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X-gebonden syndroom van verstandelijke beperking, dysmorfie en cerebrale atrofie (aandoening)
X-gebonden syndroom van verstandelijke beperking, dysmorfie en cerebrale atrofie
syndroom van Prieto-Badia-Mulas
X-gebonden syndroom van mentale retardatie, dysmorfie en cerebrale atrofie
X-gebonden syndroom van verstandelijke handicap, dysmorfie en cerebrale atrofie
Prieto Badia Mulas syndrome
X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome
This syndrome has characteristics of intellectual deficit associated with facial dysmorphism, patella luxation and abnormal growth of the teeth. It has been described in eight males from multiple generations of one family. The locus for the causative gene for this syndrome has been located to the region between p11.22 and p21.1 on the X chromosome.
Id719140001
StatusPrimitive
Associated morphologyatrophia
Finding sitestructuur van cerebrum
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetQ87.8
RuleTRUE
AdviceALWAYS Q87.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified