Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2015. Module: SNOMED CT core
Descriptions:
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Ankyloblepharon filiforme adnatum (disorder) | Is a | True | Congenital ankyloblepharon | Inferred relationship | Existential restriction modifier (core metadata concept) | |
Microphthalmia-ankyloblepharon-intellectual disability syndrome is characterised by microphthalmia, ankyloblepharon and intellectual deficit. It has been described in seven male patients from two generations of a Northern Ireland family. The causative gene is localised to the Xq27-q28 region. The syndrome is transmitted as an X-linked recessive trait. | Is a | True | Congenital ankyloblepharon | Inferred relationship | Existential restriction modifier (core metadata concept) |
This concept is not in any reference sets