204102004: Cryptophthalmos syndrome (disorder)

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

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

\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Cryptophthalmos syndrome
\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Cryptophthalmos syndrome

\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Cryptophthalmos syndrome
\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Cryptophthalmos syndrome

\Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Cryptophthalmos syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Cryptophthalmos syndrome
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system (disorder)\Cryptophthalmos syndrome
\Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Cryptophthalmos syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Cryptophthalmos syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Cryptophthalmos syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Cryptophthalmos syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Cryptophthalmos syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Cryptophthalmos syndrome
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\Cryptophthalmos syndrome
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Cryptophthalmos syndrome
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Cryptophthalmos syndrome
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Cryptophthalmos syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Cryptophthalmos syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Cryptophthalmos syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Cryptophthalmos syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Cryptophthalmos syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Cryptophthalmos syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Cryptophthalmos syndrome	Is a	Anophthalmos	false	Inferred relationship	Some
Cryptophthalmos syndrome	Finding site	Structure of nervous system (body structure)	false	Inferred relationship	Some
Cryptophthalmos syndrome	Finding site	Eye structure	true	Inferred relationship	Some	1
Cryptophthalmos syndrome	Associated morphology	Congenital absence (morphologic abnormality)	false	Inferred relationship	Some	1
Cryptophthalmos syndrome	Occurrence	Congenital	false	Inferred relationship	Some
Cryptophthalmos syndrome	Finding site	Structure of orbit proper	false	Inferred relationship	Some
Cryptophthalmos syndrome	Associated morphology	Congenital absence (morphologic abnormality)	false	Inferred relationship	Some	1
Cryptophthalmos syndrome	Finding site	Eye structure	false	Inferred relationship	Some	1
Cryptophthalmos syndrome	Occurrence	Congenital	false	Inferred relationship	Some	2
Cryptophthalmos syndrome	Associated morphology	utvecklingsabnormitet	false	Inferred relationship	Some	2
Cryptophthalmos syndrome	Finding site	Eye structure	false	Inferred relationship	Some	2
Cryptophthalmos syndrome	Is a	Congenital anomaly of eye	true	Inferred relationship	Some
Cryptophthalmos syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Cryptophthalmos syndrome	Is a	Hereditary disorder of the visual system (disorder)	true	Inferred relationship	Some
Cryptophthalmos syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Cryptophthalmos syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Cryptophthalmos syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Cryptophthalmos syndrome	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

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
312980018	Cryptophthalmos syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
589283013	Cryptophthalmos syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1784846011	Cryptophthalmos, defect of auricle AND genital anomaly	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1784847019	Fraser syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2890851000052113	Frasers syndrom	sv	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)