Status: current, Primitive. Date: 28-Feb 2022. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
4695149015 | Sanjad Sakati syndrome (disorder) | en | Fully specified name | Active | Case sensitive | SNOMED CT core |
4695150015 | Richardson Kirk syndrome | en | Synonym | Active | Case sensitive | SNOMED CT core |
4695151016 | Hypoparathyroidism, short stature, intellectual disability, seizures syndrome | en | Synonym | Active | Case insensitive | SNOMED CT core |
4695152011 | Hypoparathyroidism, intellectual disability, dysmorphism syndrome | en | Synonym | Active | Case insensitive | SNOMED CT core |
4695153018 | Sanjad Sakati syndrome | en | Synonym | Active | Case sensitive | SNOMED CT core |
4695154012 | SSS - Sanjad Sakati syndrome | en | Synonym | Active | Case sensitive | SNOMED CT core |
4695155013 | 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. | en | Definition | Active | Case sensitive | SNOMED CT core |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Clinical finding foundation reference set
Problem/Diagnosis reference set