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Microcephalus co-occurrent with cervical spine fusion anomaly (disorder)
Microcephaly with cervical spine fusion anomaly
Microcephalus co-occurrent with cervical spine fusion anomaly
A very rare disorder, features include microcephaly, facial dysmorphism (beaked nose, low-set ears, downslanting palpebral fissures, micrognathia), mild intellectual deficit, short stature, and cervical spine fusion anomalies producing spinal cord compression.
microcefalie gelijktijdig met cervicale wervelkolomfusie
Id715462003
StatusPrimitive
Associated morphologyCongenital smallness
Finding siteHead structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyMorphologically abnormal structure
Finding siteFace structure
OccurrenceCongenital
Pathological processPathological developmental process
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetQ02
RuleTRUE
AdviceALWAYS Q02
CorrelationSNOMED CT source code to target map code correlation not specified
TargetQ76.4
RuleTRUE
AdviceALWAYS Q76.4
CorrelationSNOMED CT source code to target map code correlation not specified