204102004: Cryptophthalmos syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

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

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

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

\Eye / vision finding\Globe finding\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Cryptophthalmos syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Cryptophthalmos syndrome
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system\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\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\Cryptophthalmos syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Cryptophthalmos syndrome
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\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 of eye region\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Cryptophthalmos syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Cryptophthalmos syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Cryptophthalmos syndrome
\Disease\Congenital disease\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. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

312980018 Cryptophthalmos syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

589283013 Cryptophthalmos syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

1784846011 Cryptophthalmos, defect of auricle AND genital anomaly en Synonym Active Entire term case sensitive SNOMED CT core module

1784847019 Fraser syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Cryptophthalmos syndrome	Is a	Anophthalmos	false	Inferred relationship	Existential restriction modifier
Cryptophthalmos syndrome	Finding site	Structure of nervous system	false	Inferred relationship	Existential restriction modifier
Cryptophthalmos syndrome	Finding site	Structure of eye proper	true	Inferred relationship	Existential restriction modifier	1
Cryptophthalmos syndrome	Associated morphology	Congenital absence	false	Inferred relationship	Existential restriction modifier	1
Cryptophthalmos syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier
Cryptophthalmos syndrome	Finding site	Structure of orbit proper	false	Inferred relationship	Existential restriction modifier
Cryptophthalmos syndrome	Associated morphology	Congenital absence	false	Inferred relationship	Existential restriction modifier	1
Cryptophthalmos syndrome	Finding site	Structure of eye proper	false	Inferred relationship	Existential restriction modifier	1
Cryptophthalmos syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	2
Cryptophthalmos syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	2
Cryptophthalmos syndrome	Finding site	Structure of eye proper	false	Inferred relationship	Existential restriction modifier	2
Cryptophthalmos syndrome	Is a	Congenital anomaly of eye	true	Inferred relationship	Existential restriction modifier
Cryptophthalmos syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Cryptophthalmos syndrome	Is a	Hereditary disorder of the visual system	true	Inferred relationship	Existential restriction modifier
Cryptophthalmos syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	1
Cryptophthalmos syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Cryptophthalmos syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Cryptophthalmos syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier

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	Active	Entire term case insensitive	SNOMED CT core module
589283013	Cryptophthalmos syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
1784846011	Cryptophthalmos, defect of auricle AND genital anomaly	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
1784847019	Fraser syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module