| syndroom van Sanjad-Sakati (aandoening) | | syndroom van Sanjad-Sakati | | syndroom van Richardson-Kirk
syndroom van hypoparathyroïdie, kleine gestalte, verstandelijke beperking en convulsies
syndroom van hypoparathyreoïdie, kleine gestalte, verstandelijke beperking en convulsies
| | 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. |
| | Id | 1197148005 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 2323 |
| SNOMED CT to ICD-10 extended map | | Target | Q87.1 | | Rule | TRUE | | Advice | ALWAYS Q87.1 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
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