Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3433657016 | Hypertelorism Teebi type (disorder) | en | Fully specified name | Active | Initial character case insensitive | SNOMED CT core |
3433658014 | Hypertelorism Teebi type | en | Synonym | Active | Initial character case insensitive | SNOMED CT core |
3433659018 | Brachycephalofrontonasal dysplasia | en | Synonym | Active | Case insensitive | SNOMED CT core |
3433660011 | Craniofrontonasal dysplasia Teebi type | en | Synonym | Active | Initial character case insensitive | SNOMED CT core |
3433661010 | Teebi hypertelorism syndrome | en | Synonym | Active | Case sensitive | SNOMED CT core |
3433662015 | Teebi syndrome | en | Synonym | Active | Case sensitive | SNOMED CT core |
3433663013 | A rare genetic disease with characteristics of hypertelorism with facial features that can closely resemble craniofrontonasal dysplasia, such as prominent forehead, widow's peak, heavy and broad eyebrows, long palpebral fissures, ptosis, high and broad nasal bridge, short nose, low-set ears, natal teeth, thin upper lip and a grooved chin. Limb features include fifth-finger clinodactyly, pes adductus, mild interdigital webbing. Urogenital features include bilateral cryptorchidism and shawl scrotum in males. Other manifestations include umbilical hernia/omphalocele and cardiac defects. Psychomotor development is normal. | 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
Musculoskeletal finding reference set
Problem/Diagnosis reference set