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Alport-syndroom met verstandelijke beperking, hypoplasie van middengezicht en elliptocytose (aandoening)
Alport-syndroom met verstandelijke beperking, hypoplasie van middengezicht en elliptocytose
AMME-syndroom
ATS-MR
AMME-complex
syndroom van Alport met mentale retardatie, hypoplasie van middengezicht en elliptocytose
syndroom van Alport met verstandelijke handicap, hypoplasie van middengezicht en elliptocytose
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome
AMME syndrome
AMME complex
This syndrome has characteristics of the association of Alport syndrome, midface hypoplasia, intellectual deficit and elliptocytosis. It has been described in two families. The syndrome is transmitted as an X-linked trait is caused by a contiguous gene deletion in Xq22.3 involving several genes including COL4A5, FACL4 and AMMECR1.
Id720982007
StatusPrimitive
Associated morphologychronische ontsteking
Finding sitestructuur van glomerulus
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyelliptocyt
Finding siteerytrocyt
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Has interpretationaanwezig
Interpretshemolyse
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