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724016008: Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3428880016 Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3428881017 Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5403198013 A rare ophthalmic disorder characterized by bilateral ptosis, upper ocular movement limitation, absence of the lacrimal punctum and facial dysmorphism including, narrow and squared forehead, bilateral thick and arched eyebrows, absence of bilateral lower medial eyelashes, telecanthus, mild anteverted nostrils, a relatively long philtrum and maxillary hypoplasia. Some patients may have low set and dysplastic ears. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403199017 A rare ophthalmic disorder characterised by bilateral ptosis, upper ocular movement limitation, absence of the lacrimal punctum and facial dysmorphism including, narrow and squared forehead, bilateral thick and arched eyebrows, absence of bilateral lower medial eyelashes, telecanthus, mild anteverted nostrils, a relatively long philtrum and maxillary hypoplasia. Some patients may have low set and dysplastic ears. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome (disorder) Is a Partial ablepharon true Inferred relationship Some
Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome (disorder) Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome (disorder) Is a Ptosis of eyebrow false Inferred relationship Some
Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome (disorder) Is a Lower lacrimal punctum finding true Inferred relationship Some
Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome (disorder) Is a Congenital malformation of the eyebrow false Inferred relationship Some
Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome (disorder) Is a Hereditary disorder of the visual system (disorder) true Inferred relationship Some
Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome (disorder) Is a Congenital absence of lacrimal drainage structure (disorder) true Inferred relationship Some
Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome (disorder) Is a Dysgenesis of lacrimal punctum (disorder) true Inferred relationship Some
Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome (disorder) Associated morphology Congenital absence (morphologic abnormality) false Inferred relationship Some 2
Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome (disorder) Finding site Structure of lower lacrimal punctum (body structure) false Inferred relationship Some 2
Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome (disorder) Associated morphology Congenital prolapse false Inferred relationship Some 3
Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome (disorder) Occurrence Congenital false Inferred relationship Some 3
Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome (disorder) Finding site Eyebrow structure (body structure) false Inferred relationship Some 3
Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome (disorder) Finding site Eyebrow structure (body structure) false Inferred relationship Some 2
Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome (disorder) Associated morphology Congenital absence (morphologic abnormality) false Inferred relationship Some 1
Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome (disorder) Finding site Structure of lower lacrimal punctum (body structure) true Inferred relationship Some 1
Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome (disorder) Associated morphology Prolapse (morphologic abnormality) true Inferred relationship Some 2
Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome (disorder) Finding site Upper eyelid structure true Inferred relationship Some 2
Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome (disorder) Is a Congenital ptosis (disorder) true Inferred relationship Some
Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome (disorder) Associated morphology Absence (morphologic abnormality) true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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