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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
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
3428882012 The association of absence of the lower lid lacrimal punctum, bilateral ptosis, elevation deficiency of both eyes and mild facial dysmorphism. It has been described in three siblings. The facial dysmorphism includes a narrow and squared forehead, low set and dysplastic ears, a relatively long philtrum, telecanthus, bilateral thick eyebrows and absence of bilateral lower medial eyelashes. The affected patients have no intellectual deficit. The condition seems to be transmitted as an autosomal recessive trait. en Definition Active Entire term case sensitive (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
602731000274119 Syndrom mit Ptosis, Bewegungseinschränkung des Auges und Fehlen des Tränenpünktchens de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3441511001000118 Ptosis - Bewegungseinschränkung des Auges - Fehlen des Tränenpünktchens de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
892751000172112 syndrome de ptosis-mouvement oculaire supérieur limité-absence de point lacrymal fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
892751000172112 syndrome de ptosis-mouvement oculaire supérieur limité-absence de point lacrymal fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
602731000274119 Syndrom mit Ptosis, Bewegungseinschränkung des Auges und Fehlen des Tränenpünktchens de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3441511001000118 Ptosis - Bewegungseinschränkung des Auges - Fehlen des Tränenpünktchens de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

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