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Sanjad Sakati syndrome (disorder)
Sanjad Sakati syndrome
Hypoparathyroidism, intellectual disability, dysmorphism syndrome
SSS - Sanjad Sakati syndrome
Richardson Kirk syndrome
Hypoparathyroidism, short stature, intellectual disability, seizures syndrome
A rare multiple congenital anomaly syndrome mainly occurring in the Middle East and the Arabian Gulf countries, with characteristics of intrauterine growth restriction at birth, microcephaly, congenital hypoparathyroidism, severe growth retardation, typical facial features (long narrow face, deep-set eyes, beaked nose, floppy and large ears, long philtrum, thin lips and micrognathia) and mild to moderate intellectual deficiency. Ocular findings (i.e. nanophthalmos, retinal vascular tortuosity and corneal opacification/clouding) and superior mesenteric artery syndrome have also been reported.
Id1197148005
StatusPrimitive
Has interpretationDecreased
InterpretsHormone secretion
Has interpretationBelow reference range
InterpretsHead circumference
Associated morphologyMorphologically abnormal structure
Finding siteFace structure
OccurrenceCongenital
Pathological processPathological developmental process
Finding siteParathyroid structure
OccurrenceCongenital
ICD-10 complex map reference set
TargetQ87.1
RuleTRUE
AdviceALWAYS Q87.1 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified