718691008: Isolated cryptophthalmos (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of head and neck region\Head finding\...

\Finding of head region\Disorder of eye region\Disorder of ocular adnexa\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Cryptophthalmos\Isolated cryptophthalmos
\Finding of head region\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Congenital anomaly of eyelid\Cryptophthalmos\Isolated cryptophthalmos
\Finding of head region\Finding of face\Eyelid finding\Disorder of eyelid\Congenital anomaly of eyelid\Cryptophthalmos\Isolated cryptophthalmos
\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Congenital anomaly of eyelid\Cryptophthalmos\Isolated cryptophthalmos
\Finding of head region\Finding of face\Disorder of face\Disorder of eyelid\Congenital anomaly of eyelid\Cryptophthalmos\Isolated cryptophthalmos

\Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Cryptophthalmos\Isolated cryptophthalmos
\Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Congenital anomaly of eyelid\Cryptophthalmos\Isolated cryptophthalmos
\Disorder of head\Disorder of face\Congenital anomaly of face\Congenital anomaly of eyelid\Cryptophthalmos\Isolated cryptophthalmos
\Disorder of head\Disorder of face\Disorder of eyelid\Congenital anomaly of eyelid\Cryptophthalmos\Isolated cryptophthalmos
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of eyelid\Cryptophthalmos\Isolated cryptophthalmos
\Disorder of head\Congenital anomaly of head\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Cryptophthalmos\Isolated cryptophthalmos

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

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

Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3313231015 Isolated cryptophthalmos (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3313232010 Isolated cryptophthalmos en Synonym Active Case insensitive SNOMED CT core

3313233017 Isolated cryptophthalmia en Synonym Active Case insensitive SNOMED CT core

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 Case sensitive SNOMED CT core

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3313231015	Isolated cryptophthalmos (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3313232010	Isolated cryptophthalmos	en	Synonym	Active	Case insensitive	SNOMED CT core
3313233017	Isolated cryptophthalmia	en	Synonym	Active	Case insensitive	SNOMED CT core
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	Case sensitive	SNOMED CT core