Code System Concept

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Code System Concept

Code System Concept Code	724016008
Code System Concept Name	Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome (disorder)
Code System Preferred Concept Name	Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome (disorder)
Concept Status	Published
Concept Status Date	09/01/2024
Code System Name	SNOMED-CT

Concept Relationships
Concept Details

Concept Details

Code System Code	PH_SNOMED-CT
Code System OID	2.16.840.1.113883.6.96
HL7 Table 0396 Code	SCT
Superseded By Concept
SDO Concept Status	Active
SDO Concept Status Date	07/31/2017
SDO Date Created	07/31/2017
SDO Date Revised	07/31/2017
Description	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.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
3428881017	Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome	Active	Synonym	false	false

Associated Value Sets

Value Set Name	Version(s)
Clinical Finding (NNDSS)	2 , 1
Disease	10 , 9 , 8 , 7
Problem Value Set	3

Parent Concepts

Parent Concepts

Parent/Child (Relationship Type)

Autosomal recessive hereditary disorder (disorder) {85995004 , SNOMED-CT } Congenital absence of lacrimal drainage structure (disorder) {418087009 , SNOMED-CT } Congenital malformation of the eyebrow (disorder) {253206006 , SNOMED-CT } Congenital ptosis (disorder) {268163008 , SNOMED-CT } Developmental hereditary disorder (disorder) {363070008 , SNOMED-CT } Dysgenesis of lacrimal punctum (disorder) {422731002 , SNOMED-CT } Hereditary disorder of the visual system (disorder) {363343008 , SNOMED-CT } Lower lacrimal punctum finding (finding) {246857003 , SNOMED-CT } Multiple malformation syndrome with facial defects as major feature (disorder) {65094009 , SNOMED-CT } Partial ablepharon (disorder) {45484000 , SNOMED-CT } Ptosis of eyebrow (finding) {246813002 , SNOMED-CT }

Other Relationships

No other relationships present.

Child Concepts

No child concepts present.

Page last reviewed:June 20, 2024
Page last updated:June 20, 2024
Content source:
- Centers for Disease Control and Prevention,