Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3498733012 | Microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
3498734018 | Mikati Najjar Sahli syndrome | en | Synonym | Active | Case sensitive | SNOMED CT core |
3498735017 | Microcephalus, hypergonadotropic hypogonadism, short stature syndrome | en | Synonym | Active | Case insensitive | SNOMED CT core |
3499971019 | Syndrome with characteristics of microcephaly, hypergonadotropic hypogonadism, short stature and facial dysmorphism (a narrow forehead, hypertrophy and fusion of the eyebrows, micrognathia and pinnae abnormalities). It has been described in five siblings (three males and two females) born to consanguineous parents. Additional congenital anomalies present in some of the patients included cubitus valgus and genu valgum. Early tooth loss was also reported. The mode of transmission appears to be autosomal recessive. | en | Definition | Active | Case sensitive | SNOMED CT core |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Problem/Diagnosis reference set