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Prune exopolyphosphatase 1-related neurological syndrome (disorder)
PRUNE1-related neurological syndrome
Prune exopolyphosphatase 1-related neurological syndrome
A rare genetic syndromic intellectual disability with characteristics of infantile onset of global developmental delay and profound intellectual disability in association with a heterogeneous spectrum of manifestations, such as features of lower motor neuron disease, hypotonia, spasticity, contractures, seizures, respiratory insufficiency and optic atrophy among others. Dysmorphic craniofacial features include microcephaly, tall forehead, bitemporal narrowing, flat nasal bridge, low-set ears, and high-arched palate. Brain imaging may show cerebral and cerebellar atrophy, delayed myelination and thin corpus callosum.
Id1222657001
StatusPrimitive
ICD-10 complex map reference set
TargetQ07.8
RuleTRUE
AdviceALWAYS Q07.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified