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13401001: Ablepharon (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2005. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
22906014 Ablepharon en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
22909019 Ablepharia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
22910012 Open eye en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
738711014 Ablepharon (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
1220954016 Ablepharon - absent eyelids en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4433751000241115 ablépharie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
651521000274110 Ablepharie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

10 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Ablepharon Is a Congenital structural abnormality of eyelid true Inferred relationship Some
Ablepharon Associated morphology Congenital absence false Inferred relationship Some 1
Ablepharon Occurrence Congenital false Inferred relationship Some
Ablepharon Finding site Eyelid structure false Inferred relationship Some 1
Ablepharon Finding site Structure of orbit proper false Inferred relationship Some 1
Ablepharon Associated morphology anomalie congénitale false Inferred relationship Some 1
Ablepharon Is a Congenital malformation false Inferred relationship Some
Ablepharon Associated morphology Congenital absence false Inferred relationship Some 1
Ablepharon Finding site Eyelid structure false Inferred relationship Some 1
Ablepharon Occurrence Congenital false Inferred relationship Some 2
Ablepharon Finding site Eyelid structure false Inferred relationship Some 2
Ablepharon Is a Congenital absence false Inferred relationship Some
Ablepharon Associated morphology Congenital absence false Inferred relationship Some 2
Ablepharon Occurrence Congenital true Inferred relationship Some 1
Ablepharon Finding site Eyelid structure true Inferred relationship Some 1
Ablepharon Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Ablepharon Associated morphology Aplasia false Inferred relationship Some 1
Ablepharon Associated morphology Absence (morphologic abnormality) true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Partial ablepharon Is a True Ablepharon Inferred relationship Some
Agenesis of eyelid Is a False Ablepharon Inferred relationship Some
Agenesis of punctum lacrimale Is a False Ablepharon Inferred relationship Some
Congenital absence of eyelash Is a False Ablepharon Inferred relationship Some
Complete ablepharon Is a True Ablepharon Inferred relationship Some
An extremely rare multiple congenital malformation syndrome characterized by the association of ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations and developmental delay (in 2/3 of cases). Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation. It is a mainly sporadic disorder, although a few familial cases having been reported, and it displays significant clinical overlap with Fraser syndrome. Is a True Ablepharon 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 False Ablepharon Inferred relationship Some
Ablepharon of bilateral eyelids (disorder) Is a True Ablepharon Inferred relationship Some

This concept is not in any reference sets

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