Anomaly of chromosome X
Congenital anomaly of the kidney
Congenital nephritis
Hereditary elliptocytosis
Hereditary nephritis
Intellectual disability
Multiple malformation syndrome with facial defects as major feature
X-linked hereditary disease
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Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder)
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome
AMME complex
AMME syndrome
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.
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
Id720982007
StatusPrimitive
Associated morphologyMorphologically abnormal structure
Finding siteFace structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyDeletion of long arm
Finding siteSex chromosome X
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyChronic inflammation
Finding siteGlomerulus structure
OccurrenceCongenital
Pathological processPathological developmental process
Has interpretationBelow reference range
InterpretsRed blood cell count
Associated morphologyElliptocyte
Finding siteErythrocyte
OccurrenceCongenital
Pathological processPathological developmental process
Has interpretationBelow reference range
InterpretsMeasurement of total hemoglobin concentration
Has interpretationPresent
InterpretsHemolysis
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
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