763132003: Coloboma of superior eyelid (disorder)

Descriptions:

Id Description Lang Type Status Case? Module

3637962014 Coloboma of superior eyelid en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3637963016 Coloboma of upper eyelid en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3637964010 Coloboma of superior eyelid (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3637965011 Superior palpebral coloboma en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5403948013 Coloboma of superior eyelid is a rare developmental defect during embryogenesis characterized by a typically unilateral, partial or full-thickness, variably sized defect of the superior eyelid, ranging from a small notch to complete absence of the entire lid, which is commonly triangular in shape (with base at eyelid margin) and located on the medial third of the lid. It can occur isolated, associated with other anomalies (e.g. ocular/orbital and facial), or as part of a syndrome. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5403949017 Coloboma of superior eyelid is a rare developmental defect during embryogenesis characterised by a typically unilateral, partial or full-thickness, variably sized defect of the superior eyelid, ranging from a small notch to complete absence of the entire lid, which is commonly triangular in shape (with base at eyelid margin) and located on the medial third of the lid. It can occur isolated, associated with other anomalies (e.g. ocular/orbital and facial), or as part of a syndrome. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Coloboma of superior eyelid	Is a	Coloboma of eyelid	true	Inferred relationship	Some
Coloboma of superior eyelid	Associated morphology	Developmental failure of fusion (morphologic abnormality)	true	Inferred relationship	Some	1
Coloboma of superior eyelid	Occurrence	Congenital	true	Inferred relationship	Some	1
Coloboma of superior eyelid	Finding site	Upper eyelid structure	true	Inferred relationship	Some	1
Coloboma of superior eyelid	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Coloboma of superior eyelid	Is a	Lesion of upper eyelid	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Hypospadias, hypertelorism, coloboma, deafness syndrome	Is a	False	Coloboma of superior eyelid	Inferred relationship	Some

Reference Sets

Id	Description	Lang	Type	Status	Case?	Module
3637962014	Coloboma of superior eyelid	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3637963016	Coloboma of upper eyelid	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3637964010	Coloboma of superior eyelid (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3637965011	Superior palpebral coloboma	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5403948013	Coloboma of superior eyelid is a rare developmental defect during embryogenesis characterized by a typically unilateral, partial or full-thickness, variably sized defect of the superior eyelid, ranging from a small notch to complete absence of the entire lid, which is commonly triangular in shape (with base at eyelid margin) and located on the medial third of the lid. It can occur isolated, associated with other anomalies (e.g. ocular/orbital and facial), or as part of a syndrome.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403949017	Coloboma of superior eyelid is a rare developmental defect during embryogenesis characterised by a typically unilateral, partial or full-thickness, variably sized defect of the superior eyelid, ranging from a small notch to complete absence of the entire lid, which is commonly triangular in shape (with base at eyelid margin) and located on the medial third of the lid. It can occur isolated, associated with other anomalies (e.g. ocular/orbital and facial), or as part of a syndrome.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core