718691008: geïsoleerde cryptoftalmie (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\Cryptophthalmos (disorder)\Isolated cryptophthalmos (disorder)
\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\Cryptophthalmos (disorder)\Isolated cryptophthalmos (disorder)
\Head finding (finding)\Finding of head region\Finding of eye region\Eyelid finding\Disorder of eyelid\Congenital structural abnormality of eyelid\Cryptophthalmos (disorder)\Isolated cryptophthalmos (disorder)
\Head finding (finding)\Finding of head region\Finding of face\Eyelid finding\Disorder of eyelid\Congenital structural abnormality of eyelid\Cryptophthalmos (disorder)\Isolated cryptophthalmos (disorder)
\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital structural abnormality of eyelid\Cryptophthalmos (disorder)\Isolated cryptophthalmos (disorder)
\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Disorder of eyelid\Congenital structural abnormality of eyelid\Cryptophthalmos (disorder)\Isolated cryptophthalmos (disorder)
\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\Cryptophthalmos (disorder)\Isolated cryptophthalmos (disorder)
\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\Cryptophthalmos (disorder)\Isolated cryptophthalmos (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital structural abnormality of eyelid\Cryptophthalmos (disorder)\Isolated cryptophthalmos (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of eyelid\Congenital structural abnormality of eyelid\Cryptophthalmos (disorder)\Isolated cryptophthalmos (disorder)
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital structural abnormality of eyelid\Cryptophthalmos (disorder)\Isolated cryptophthalmos (disorder)
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of ocular adnexa (disorder)\Congenital structural abnormality of eyelid\Cryptophthalmos (disorder)\Isolated cryptophthalmos (disorder)

\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\Cryptophthalmos (disorder)\Isolated cryptophthalmos (disorder)
\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\Cryptophthalmos (disorder)\Isolated cryptophthalmos (disorder)
\Eye / vision finding\Finding of eye region\Eyelid finding\Disorder of eyelid\Congenital structural abnormality of eyelid\Cryptophthalmos (disorder)\Isolated cryptophthalmos (disorder)
\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\Cryptophthalmos (disorder)\Isolated cryptophthalmos (disorder)
\Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Congenital structural abnormality of eyelid\Cryptophthalmos (disorder)\Isolated cryptophthalmos (disorder)
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system (disorder)\Isolated cryptophthalmos (disorder)
\Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa (disorder)\Congenital structural abnormality of eyelid\Cryptophthalmos (disorder)\Isolated cryptophthalmos (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Isolated cryptophthalmos (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Isolated cryptophthalmos (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Isolated cryptophthalmos (disorder)
\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\Cryptophthalmos (disorder)\Isolated cryptophthalmos (disorder)
\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\Cryptophthalmos (disorder)\Isolated cryptophthalmos (disorder)
\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\Cryptophthalmos (disorder)\Isolated cryptophthalmos (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Isolated cryptophthalmos (disorder)
\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\Cryptophthalmos (disorder)\Isolated cryptophthalmos (disorder)
\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\Cryptophthalmos (disorder)\Isolated cryptophthalmos (disorder)
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\Isolated cryptophthalmos (disorder)
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa (disorder)\Congenital structural abnormality of eyelid\Cryptophthalmos (disorder)\Isolated cryptophthalmos (disorder)
\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\Cryptophthalmos (disorder)\Isolated cryptophthalmos (disorder)
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Congenital structural abnormality of eyelid\Cryptophthalmos (disorder)\Isolated cryptophthalmos (disorder)
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital structural abnormality of eyelid\Cryptophthalmos (disorder)\Isolated cryptophthalmos (disorder)
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of eyelid\Congenital structural abnormality of eyelid\Cryptophthalmos (disorder)\Isolated cryptophthalmos (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital structural abnormality of eyelid\Cryptophthalmos (disorder)\Isolated cryptophthalmos (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of ocular adnexa (disorder)\Congenital structural abnormality of eyelid\Cryptophthalmos (disorder)\Isolated cryptophthalmos (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Isolated cryptophthalmos (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa (disorder)\Congenital structural abnormality of eyelid\Cryptophthalmos (disorder)\Isolated cryptophthalmos (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital structural abnormality of eyelid\Cryptophthalmos (disorder)\Isolated cryptophthalmos (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of ocular adnexa (disorder)\Congenital structural abnormality of eyelid\Cryptophthalmos (disorder)\Isolated cryptophthalmos (disorder)

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

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Isolated cryptophthalmos (disorder)	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Isolated cryptophthalmos (disorder)	Is a	Hereditary disorder of the visual system (disorder)	true	Inferred relationship	Some
Isolated cryptophthalmos (disorder)	Is a	Cryptophthalmos (disorder)	true	Inferred relationship	Some
Isolated cryptophthalmos (disorder)	Associated morphology	gebrekkige ontwikkeling (afwijkende morfologie)	false	Inferred relationship	Some	1
Isolated cryptophthalmos (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Isolated cryptophthalmos (disorder)	Finding site	Eyelid structure	true	Inferred relationship	Some	1
Isolated cryptophthalmos (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Isolated cryptophthalmos (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Isolated cryptophthalmos (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3313231015	Isolated cryptophthalmos (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3313232010	Isolated cryptophthalmos	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3313233017	Isolated cryptophthalmia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
12577951000146112	geïsoleerde cryptoftalmie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
12577961000146110	geïsoleerde cryptoftalmie (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
3313234011	A congenital abnormality in which the eyelids are absent and skin covers the ocular bulb, which is often microphthalmic. Six cases of complete bilateral cryptophthalmia have been described. Transmission is autosomal dominant.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core