718691008: Isolated cryptophthalmos (disorder)

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

\Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Congenital anomaly of ocular adnexa\Congenital structural abnormality of eyelid\Cryptophthalmos (disorder)\A rare congenital abnormality in which the eyelids are absent and skin covers the ocular bulb, which is often microphthalmic. A few cases of complete bilateral cryptophthalmia have been described.
\Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Congenital structural abnormality of eyelid\Cryptophthalmos (disorder)\A rare congenital abnormality in which the eyelids are absent and skin covers the ocular bulb, which is often microphthalmic. A few cases of complete bilateral cryptophthalmia have been described.
\Head finding (finding)\Finding of head region\Finding of face\Eyelid finding\Disorder of eyelid\Congenital structural abnormality of eyelid\Cryptophthalmos (disorder)\A rare congenital abnormality in which the eyelids are absent and skin covers the ocular bulb, which is often microphthalmic. A few cases of complete bilateral cryptophthalmia have been described.
\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)\A rare congenital abnormality in which the eyelids are absent and skin covers the ocular bulb, which is often microphthalmic. A few cases of complete bilateral cryptophthalmia have been described.
\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Disorder of eyelid\Congenital structural abnormality of eyelid\Cryptophthalmos (disorder)\A rare congenital abnormality in which the eyelids are absent and skin covers the ocular bulb, which is often microphthalmic. A few cases of complete bilateral cryptophthalmia have been described.
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Congenital anomaly of ocular adnexa\Congenital structural abnormality of eyelid\Cryptophthalmos (disorder)\A rare congenital abnormality in which the eyelids are absent and skin covers the ocular bulb, which is often microphthalmic. A few cases of complete bilateral cryptophthalmia have been described.
\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)\A rare congenital abnormality in which the eyelids are absent and skin covers the ocular bulb, which is often microphthalmic. A few cases of complete bilateral cryptophthalmia have been described.
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital structural abnormality of eyelid\Cryptophthalmos (disorder)\A rare congenital abnormality in which the eyelids are absent and skin covers the ocular bulb, which is often microphthalmic. A few cases of complete bilateral cryptophthalmia have been described.
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of eyelid\Congenital structural abnormality of eyelid\Cryptophthalmos (disorder)\A rare congenital abnormality in which the eyelids are absent and skin covers the ocular bulb, which is often microphthalmic. A few cases of complete bilateral cryptophthalmia have been described.
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital structural abnormality of eyelid\Cryptophthalmos (disorder)\A rare congenital abnormality in which the eyelids are absent and skin covers the ocular bulb, which is often microphthalmic. A few cases of complete bilateral cryptophthalmia have been described.
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of ocular adnexa\Congenital structural abnormality of eyelid\Cryptophthalmos (disorder)\A rare congenital abnormality in which the eyelids are absent and skin covers the ocular bulb, which is often microphthalmic. A few cases of complete bilateral cryptophthalmia have been described.

\Eye / vision finding\Eyelid finding\Disorder of eyelid\Congenital structural abnormality of eyelid\Cryptophthalmos (disorder)\A rare congenital abnormality in which the eyelids are absent and skin covers the ocular bulb, which is often microphthalmic. A few cases of complete bilateral cryptophthalmia have been described.
\Eye / vision finding\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Congenital anomaly of ocular adnexa\Congenital structural abnormality of eyelid\Cryptophthalmos (disorder)\A rare congenital abnormality in which the eyelids are absent and skin covers the ocular bulb, which is often microphthalmic. A few cases of complete bilateral cryptophthalmia have been described.
\Eye / vision finding\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Congenital structural abnormality of eyelid\Cryptophthalmos (disorder)\A rare congenital abnormality in which the eyelids are absent and skin covers the ocular bulb, which is often microphthalmic. A few cases of complete bilateral cryptophthalmia have been described.
\Eye / vision finding\Visual system disorder (disorder)\Hereditary disorder of the visual system\A rare congenital abnormality in which the eyelids are absent and skin covers the ocular bulb, which is often microphthalmic. A few cases of complete bilateral cryptophthalmia have been described.
\Eye / vision finding\Visual system disorder (disorder)\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa\Congenital structural abnormality of eyelid\Cryptophthalmos (disorder)\A rare congenital abnormality in which the eyelids are absent and skin covers the ocular bulb, which is often microphthalmic. A few cases of complete bilateral cryptophthalmia have been described.

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\A rare congenital abnormality in which the eyelids are absent and skin covers the ocular bulb, which is often microphthalmic. A few cases of complete bilateral cryptophthalmia have been described.
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\A rare congenital abnormality in which the eyelids are absent and skin covers the ocular bulb, which is often microphthalmic. A few cases of complete bilateral cryptophthalmia have been described.
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder (disorder)\A rare congenital abnormality in which the eyelids are absent and skin covers the ocular bulb, which is often microphthalmic. A few cases of complete bilateral cryptophthalmia have been described.
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa\Congenital structural abnormality of eyelid\Cryptophthalmos (disorder)\A rare congenital abnormality in which the eyelids are absent and skin covers the ocular bulb, which is often microphthalmic. A few cases of complete bilateral cryptophthalmia have been described.
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital structural abnormality of eyelid\Cryptophthalmos (disorder)\A rare congenital abnormality in which the eyelids are absent and skin covers the ocular bulb, which is often microphthalmic. A few cases of complete bilateral cryptophthalmia have been described.
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of ocular adnexa\Congenital structural abnormality of eyelid\Cryptophthalmos (disorder)\A rare congenital abnormality in which the eyelids are absent and skin covers the ocular bulb, which is often microphthalmic. A few cases of complete bilateral cryptophthalmia have been described.
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\A rare congenital abnormality in which the eyelids are absent and skin covers the ocular bulb, which is often microphthalmic. A few cases of complete bilateral cryptophthalmia have been described.
\Disease\Disorder of body system\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Congenital anomaly of ocular adnexa\Congenital structural abnormality of eyelid\Cryptophthalmos (disorder)\A rare congenital abnormality in which the eyelids are absent and skin covers the ocular bulb, which is often microphthalmic. A few cases of complete bilateral cryptophthalmia have been described.
\Disease\Disorder of body system\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Congenital structural abnormality of eyelid\Cryptophthalmos (disorder)\A rare congenital abnormality in which the eyelids are absent and skin covers the ocular bulb, which is often microphthalmic. A few cases of complete bilateral cryptophthalmia have been described.
\Disease\Disorder of body system\Visual system disorder (disorder)\Hereditary disorder of the visual system\A rare congenital abnormality in which the eyelids are absent and skin covers the ocular bulb, which is often microphthalmic. A few cases of complete bilateral cryptophthalmia have been described.
\Disease\Disorder of body system\Visual system disorder (disorder)\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa\Congenital structural abnormality of eyelid\Cryptophthalmos (disorder)\A rare congenital abnormality in which the eyelids are absent and skin covers the ocular bulb, which is often microphthalmic. A few cases of complete bilateral cryptophthalmia have been described.
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Congenital anomaly of ocular adnexa\Congenital structural abnormality of eyelid\Cryptophthalmos (disorder)\A rare congenital abnormality in which the eyelids are absent and skin covers the ocular bulb, which is often microphthalmic. A few cases of complete bilateral cryptophthalmia have been described.
\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)\A rare congenital abnormality in which the eyelids are absent and skin covers the ocular bulb, which is often microphthalmic. A few cases of complete bilateral cryptophthalmia have been described.
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital structural abnormality of eyelid\Cryptophthalmos (disorder)\A rare congenital abnormality in which the eyelids are absent and skin covers the ocular bulb, which is often microphthalmic. A few cases of complete bilateral cryptophthalmia have been described.
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of eyelid\Congenital structural abnormality of eyelid\Cryptophthalmos (disorder)\A rare congenital abnormality in which the eyelids are absent and skin covers the ocular bulb, which is often microphthalmic. A few cases of complete bilateral cryptophthalmia have been described.
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital structural abnormality of eyelid\Cryptophthalmos (disorder)\A rare congenital abnormality in which the eyelids are absent and skin covers the ocular bulb, which is often microphthalmic. A few cases of complete bilateral cryptophthalmia have been described.
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of ocular adnexa\Congenital structural abnormality of eyelid\Cryptophthalmos (disorder)\A rare congenital abnormality in which the eyelids are absent and skin covers the ocular bulb, which is often microphthalmic. A few cases of complete bilateral cryptophthalmia have been described.
\Disease\Developmental disorder\Developmental hereditary disorder\A rare congenital abnormality in which the eyelids are absent and skin covers the ocular bulb, which is often microphthalmic. A few cases of complete bilateral cryptophthalmia have been described.
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa\Congenital structural abnormality of eyelid\Cryptophthalmos (disorder)\A rare congenital abnormality in which the eyelids are absent and skin covers the ocular bulb, which is often microphthalmic. A few cases of complete bilateral cryptophthalmia have been described.
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital structural abnormality of eyelid\Cryptophthalmos (disorder)\A rare congenital abnormality in which the eyelids are absent and skin covers the ocular bulb, which is often microphthalmic. A few cases of complete bilateral cryptophthalmia have been described.
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of ocular adnexa\Congenital structural abnormality of eyelid\Cryptophthalmos (disorder)\A rare congenital abnormality in which the eyelids are absent and skin covers the ocular bulb, which is often microphthalmic. A few cases of complete bilateral cryptophthalmia have been described.

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
A rare congenital abnormality in which the eyelids are absent and skin covers the ocular bulb, which is often microphthalmic. A few cases of complete bilateral cryptophthalmia have been described.	Is a	Autosomal dominant hereditary disorder (disorder)	true	Inferred relationship	Some
A rare congenital abnormality in which the eyelids are absent and skin covers the ocular bulb, which is often microphthalmic. A few cases of complete bilateral cryptophthalmia have been described.	Is a	Hereditary disorder of the visual system	true	Inferred relationship	Some
A rare congenital abnormality in which the eyelids are absent and skin covers the ocular bulb, which is often microphthalmic. A few cases of complete bilateral cryptophthalmia have been described.	Is a	Cryptophthalmos (disorder)	true	Inferred relationship	Some
A rare congenital abnormality in which the eyelids are absent and skin covers the ocular bulb, which is often microphthalmic. A few cases of complete bilateral cryptophthalmia have been described.	Associated morphology	anomalie du développement	false	Inferred relationship	Some	1
A rare congenital abnormality in which the eyelids are absent and skin covers the ocular bulb, which is often microphthalmic. A few cases of complete bilateral cryptophthalmia have been described.	Occurrence	Congenital	true	Inferred relationship	Some	1
A rare congenital abnormality in which the eyelids are absent and skin covers the ocular bulb, which is often microphthalmic. A few cases of complete bilateral cryptophthalmia have been described.	Finding site	Eyelid structure	true	Inferred relationship	Some	1
A rare congenital abnormality in which the eyelids are absent and skin covers the ocular bulb, which is often microphthalmic. A few cases of complete bilateral cryptophthalmia have been described.	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
A rare congenital abnormality in which the eyelids are absent and skin covers the ocular bulb, which is often microphthalmic. A few cases of complete bilateral cryptophthalmia have been described.	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
A rare congenital abnormality in which the eyelids are absent and skin covers the ocular bulb, which is often microphthalmic. A few cases of complete bilateral cryptophthalmia have been described.	Is a	Developmental hereditary disorder	true	Inferred relationship	Some

Inbound Relationships

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Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
5401820015	A rare congenital abnormality in which the eyelids are absent and skin covers the ocular bulb, which is often microphthalmic. A few cases of complete bilateral cryptophthalmia have been described.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
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
6396581000241118	cryptophtalmie isolée	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
563331000274119	Isolierter Kryptophthalmus	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
601351000274118	Isolierte Kryptophthalmie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module