Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2005. Module: SNOMED CT core
Descriptions:
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes. | Is a | True | Congenital absence of eyelash | Inferred relationship | Some | |
A rare syndromic intellectual deficiency characterized by psychomotor delay, severe progressive spastic quadriplegia, microcephaly, and a Hallermann-Streiff-like phenotype including absence of eyebrows and eyelashes, glaucoma, and small, beaked nose. Structural central nervous system abnormalities (cervical spinal cyst, occipital cranium bifidum occulatum) were additional findings. There have been no further descriptions in the literature since 1974. | Is a | True | Congenital absence of eyelash | Inferred relationship | Some | |
Agenesis of cilia of eyelid (disorder) | Is a | True | Congenital absence of eyelash | Inferred relationship | Some |
This concept is not in any reference sets