Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3316160014 | Microcephalus cleft palate syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3316161013 | Microcephalus cleft palate syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3316162018 | Microcephaly cleft palate syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3316193017 | Halal syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3316194011 | This syndrome is characterised by the combination of microcephaly, cleft palate, and variable anomalies such as unusual facial appearance, hypotelorism, abnormal retinal pigmentation, maxillary hypoplasia, goitre, camptodactyly, mild intellectual deficit, and abnormal dermatoglyphics. It has been described only once; in two sisters and their mother. Although microcephaly and intellectual deficit are frequently associated with cleft palate, the other features of these patients are in favour of this syndrome being an entity per se. The mode of inheritance is autosomal or X-linked dominant. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3316195012 | This syndrome is characterized by the combination of microcephaly, cleft palate, and variable anomalies such as unusual facial appearance, hypotelorism, abnormal retinal pigmentation, maxillary hypoplasia, goiter, camptodactyly, mild intellectual deficit, and abnormal dermatoglyphics. It has been described only once; in two sisters and their mother. Although microcephaly and intellectual deficit are frequently associated with cleft palate, the other features of these patients are in favour of this syndrome being an entity per se. The mode of inheritance is autosomal or X-linked dominant. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3936011000052113 | syndrom med mikrocefali och kluven gom | sv | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Sweden NRC maintained module (core metadata concept) |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets