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'Kelch like family member 7'-gerelateerd Bohring-Opitz-achtig syndroom (aandoening)
KLHL7-gerelateerd Bohring-Opitz-achtig syndroom
KLHL7-gerelateerd BOS-achtig syndroom
'Kelch like family member 7'-gerelateerd Bohring-Opitz-achtig syndroom
KLHL7-related Bohring Opitz-like syndrome
Kelch like family member 7-related Bohring Opitz-like syndrome
KLHL7 (kelch like family member 7) related Bohring Opitz-like syndrome
A rare multiple congenital anomalies syndrome with characteristics of several of the typical clinical features of Bohring Opitz syndrome such as intrauterine growth retardation, facial dysmorphism, microcephaly, severe feeding difficulties, joint contractures, intellectual disability and a Bohring Opitz syndrome posture of upper limbs. Trigonocephaly, synophrys, high myopia and cyclic emesis are very rarely described.
Id1300133004
StatusPrimitive
SNOMED CT to ICD-10 extended map
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