763132003: congenitaal coloboom van bovenooglid (aandoening)

SNOMED CT Concept\Clinical finding (finding)\...

\Head finding (finding)\Finding of head region\Finding of eye region\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Congenital anomaly of ocular adnexa (disorder)\Congenital structural abnormality of eyelid\Coloboma of eyelid\Coloboma of superior eyelid
\Head finding (finding)\Finding of head region\Finding of eye region\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Lesion of eyelid\Lesion of upper eyelid\Coloboma of superior eyelid
\Head finding (finding)\Finding of head region\Finding of eye region\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Lesion of eyelid\Coloboma of eyelid\Coloboma of superior eyelid
\Head finding (finding)\Finding of head region\Finding of eye region\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Congenital structural abnormality of eyelid\Coloboma of eyelid\Coloboma of superior eyelid
\Head finding (finding)\Finding of head region\Finding of eye region\Eyelid finding\Disorder of eyelid\Lesion of eyelid\Lesion of upper eyelid\Coloboma of superior eyelid
\Head finding (finding)\Finding of head region\Finding of eye region\Eyelid finding\Disorder of eyelid\Lesion of eyelid\Coloboma of eyelid\Coloboma of superior eyelid
\Head finding (finding)\Finding of head region\Finding of eye region\Eyelid finding\Disorder of eyelid\Congenital structural abnormality of eyelid\Coloboma of eyelid\Coloboma of superior eyelid
\Head finding (finding)\Finding of head region\Finding of face\Eyelid finding\Disorder of eyelid\Lesion of eyelid\Lesion of upper eyelid\Coloboma of superior eyelid
\Head finding (finding)\Finding of head region\Finding of face\Eyelid finding\Disorder of eyelid\Lesion of eyelid\Coloboma of eyelid\Coloboma of superior eyelid
\Head finding (finding)\Finding of head region\Finding of face\Eyelid finding\Disorder of eyelid\Congenital structural abnormality of eyelid\Coloboma of eyelid\Coloboma of superior eyelid
\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Lesion of face\Lesion of eyelid\Lesion of upper eyelid\Coloboma of superior eyelid
\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Lesion of face\Lesion of eyelid\Coloboma of eyelid\Coloboma of superior eyelid
\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital structural abnormality of eyelid\Coloboma of eyelid\Coloboma of superior eyelid
\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Disorder of eyelid\Lesion of eyelid\Lesion of upper eyelid\Coloboma of superior eyelid
\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Disorder of eyelid\Lesion of eyelid\Coloboma of eyelid\Coloboma of superior eyelid
\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Disorder of eyelid\Congenital structural abnormality of eyelid\Coloboma of eyelid\Coloboma of superior eyelid
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Congenital anomaly of ocular adnexa (disorder)\Congenital structural abnormality of eyelid\Coloboma of eyelid\Coloboma of superior eyelid
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Lesion of eyelid\Lesion of upper eyelid\Coloboma of superior eyelid
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Lesion of eyelid\Coloboma of eyelid\Coloboma of superior eyelid
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Congenital structural abnormality of eyelid\Coloboma of eyelid\Coloboma of superior eyelid
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Lesion of face\Lesion of eyelid\Lesion of upper eyelid\Coloboma of superior eyelid
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Lesion of face\Lesion of eyelid\Coloboma of eyelid\Coloboma of superior eyelid
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital structural abnormality of eyelid\Coloboma of eyelid\Coloboma of superior eyelid
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of eyelid\Lesion of eyelid\Lesion of upper eyelid\Coloboma of superior eyelid
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of eyelid\Lesion of eyelid\Coloboma of eyelid\Coloboma of superior eyelid
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of eyelid\Congenital structural abnormality of eyelid\Coloboma of eyelid\Coloboma of superior eyelid
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital structural abnormality of eyelid\Coloboma of eyelid\Coloboma of superior eyelid
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of ocular adnexa (disorder)\Congenital structural abnormality of eyelid\Coloboma of eyelid\Coloboma of superior eyelid

\Eye / vision finding\Finding of eye region\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Congenital anomaly of ocular adnexa (disorder)\Congenital structural abnormality of eyelid\Coloboma of eyelid\Coloboma of superior eyelid
\Eye / vision finding\Finding of eye region\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Lesion of eyelid\Lesion of upper eyelid\Coloboma of superior eyelid
\Eye / vision finding\Finding of eye region\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Lesion of eyelid\Coloboma of eyelid\Coloboma of superior eyelid
\Eye / vision finding\Finding of eye region\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Congenital structural abnormality of eyelid\Coloboma of eyelid\Coloboma of superior eyelid
\Eye / vision finding\Finding of eye region\Eyelid finding\Disorder of eyelid\Lesion of eyelid\Lesion of upper eyelid\Coloboma of superior eyelid
\Eye / vision finding\Finding of eye region\Eyelid finding\Disorder of eyelid\Lesion of eyelid\Coloboma of eyelid\Coloboma of superior eyelid
\Eye / vision finding\Finding of eye region\Eyelid finding\Disorder of eyelid\Congenital structural abnormality of eyelid\Coloboma of eyelid\Coloboma of superior eyelid
\Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Congenital anomaly of ocular adnexa (disorder)\Congenital structural abnormality of eyelid\Coloboma of eyelid\Coloboma of superior eyelid
\Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Lesion of eyelid\Lesion of upper eyelid\Coloboma of superior eyelid
\Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Lesion of eyelid\Coloboma of eyelid\Coloboma of superior eyelid
\Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Congenital structural abnormality of eyelid\Coloboma of eyelid\Coloboma of superior eyelid
\Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa (disorder)\Congenital structural abnormality of eyelid\Coloboma of eyelid\Coloboma of superior eyelid

\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa (disorder)\Congenital structural abnormality of eyelid\Coloboma of eyelid\Coloboma of superior eyelid
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital structural abnormality of eyelid\Coloboma of eyelid\Coloboma of superior eyelid
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of ocular adnexa (disorder)\Congenital structural abnormality of eyelid\Coloboma of eyelid\Coloboma of superior eyelid
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Congenital anomaly of ocular adnexa (disorder)\Congenital structural abnormality of eyelid\Coloboma of eyelid\Coloboma of superior eyelid
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Lesion of eyelid\Lesion of upper eyelid\Coloboma of superior eyelid
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Lesion of eyelid\Coloboma of eyelid\Coloboma of superior eyelid
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Congenital structural abnormality of eyelid\Coloboma of eyelid\Coloboma of superior eyelid
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa (disorder)\Congenital structural abnormality of eyelid\Coloboma of eyelid\Coloboma of superior eyelid
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Congenital anomaly of ocular adnexa (disorder)\Congenital structural abnormality of eyelid\Coloboma of eyelid\Coloboma of superior eyelid
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Lesion of eyelid\Lesion of upper eyelid\Coloboma of superior eyelid
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Lesion of eyelid\Coloboma of eyelid\Coloboma of superior eyelid
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Congenital structural abnormality of eyelid\Coloboma of eyelid\Coloboma of superior eyelid
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Lesion of face\Lesion of eyelid\Lesion of upper eyelid\Coloboma of superior eyelid
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Lesion of face\Lesion of eyelid\Coloboma of eyelid\Coloboma of superior eyelid
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital structural abnormality of eyelid\Coloboma of eyelid\Coloboma of superior eyelid
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of eyelid\Lesion of eyelid\Lesion of upper eyelid\Coloboma of superior eyelid
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of eyelid\Lesion of eyelid\Coloboma of eyelid\Coloboma of superior eyelid
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of eyelid\Congenital structural abnormality of eyelid\Coloboma of eyelid\Coloboma of superior eyelid
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital structural abnormality of eyelid\Coloboma of eyelid\Coloboma of superior eyelid
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of ocular adnexa (disorder)\Congenital structural abnormality of eyelid\Coloboma of eyelid\Coloboma of superior eyelid
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa (disorder)\Congenital structural abnormality of eyelid\Coloboma of eyelid\Coloboma of superior eyelid
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital structural abnormality of eyelid\Coloboma of eyelid\Coloboma of superior eyelid
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of ocular adnexa (disorder)\Congenital structural abnormality of eyelid\Coloboma of eyelid\Coloboma of superior eyelid

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

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

7853921000146113 congenitaal coloboom van bovenste ooglid nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7853931000146110 congenitaal coloboom van palpebra superior nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

9599951000146118 congenitaal coloboom van bovenooglid nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

9600071000146111 congenitaal coloboom van bovenooglid (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

3637966012 A rare developmental defect during embryogenesis with 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

Expanded Value Set

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

This concept is not in any reference sets