Anomaly of chromosome X
Childhood obesity
Congenital macrocephaly
Intellectual disability
Multiple malformation syndrome with facial defects as major feature
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Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder)
Intellectual disability, seizures, macrocephaly, obesity syndrome
A rare syndromic obesity due to complex chromosomal rearrangement with characteristics of development delay and intellectual disability, childhood-onset obesity, seizures, poor coordination and broad-based gait, macrocephaly and mild dysmorphic features (such as narrow palpebral fissures, malar hypoplasia and thin upper lips), eczema, ocular abnormalities and a social personality.
syndroom van verstandelijke beperking, epileptische aanvallen, macrocefalie en obesitas
syndroom van verstandelijke beperking, insulten, macrocefalie en obesitas
syndroom van verstandelijke handicap, convulsies, macrocefalie en obesitas
Id770750002
StatusPrimitive
Associated morphologyChromosomal morphology
Finding siteSex chromosome X
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyMorphologically abnormal structure
Finding siteFace structure
OccurrenceCongenital
Pathological processPathological developmental process
Has interpretationAbove reference range
InterpretsBody weight measure
OccurrenceChildhood
Associated morphologyEnlargement
Finding siteHead structure
OccurrenceCongenital
Pathological processPathological developmental process
Has interpretationAbove reference range
InterpretsHead circumference
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