720496006: Anophthalmia plus 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\Anophthalmia plus syndrome
\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Anophthalmia plus syndrome
\Finding of head region\Globe finding\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Anophthalmia plus syndrome

\Disorder of head\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Anophthalmia plus syndrome
\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Anophthalmia plus syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Anophthalmia plus syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Anophthalmia plus syndrome

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

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Anophthalmia plus syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Anophthalmia plus syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Anophthalmia plus syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Anophthalmia plus syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Anophthalmia plus syndrome
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Anophthalmia plus syndrome
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Anophthalmia plus syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Anophthalmia plus syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Anophthalmia plus syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Anophthalmia plus syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Anophthalmia plus syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Anophthalmia plus syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Anophthalmia plus syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Anophthalmia plus syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Anophthalmia plus syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Anophthalmia plus syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Anophthalmia plus syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Anophthalmia plus syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Anophthalmia plus syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Anophthalmia plus syndrome

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

Descriptions:

Id Description Lang Type Status Case? Module

3321023011 Anophthalmia plus syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

3321024017 Anophthalmia plus syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

3321025016 Fryns microphthalmia syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Anophthalmia plus syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Existential restriction modifier
Anophthalmia plus syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Anophthalmia plus syndrome	Is a	Agenesis of eye	false	Inferred relationship	Existential restriction modifier
Anophthalmia plus syndrome	Is a	Hereditary disorder of the visual system	true	Inferred relationship	Existential restriction modifier
Anophthalmia plus syndrome	Associated morphology	Congenital absence	false	Inferred relationship	Existential restriction modifier	2
Anophthalmia plus syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Anophthalmia plus syndrome	Finding site	Entire eye	true	Inferred relationship	Existential restriction modifier	2
Anophthalmia plus syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	3
Anophthalmia plus syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	2
Anophthalmia plus syndrome	Finding site	Face structure	false	Inferred relationship	Existential restriction modifier	2
Anophthalmia plus syndrome	Associated morphology	Congenital absence	false	Inferred relationship	Existential restriction modifier	3
Anophthalmia plus syndrome	Finding site	Entire eye	false	Inferred relationship	Existential restriction modifier	3
Anophthalmia plus syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Anophthalmia plus syndrome	Finding site	Face structure	true	Inferred relationship	Existential restriction modifier	1
Anophthalmia plus syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Anophthalmia plus syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Anophthalmia plus syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	1
Anophthalmia plus syndrome	Is a	Congenital anomaly of eye	true	Inferred relationship	Existential restriction modifier
Anophthalmia plus syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier
Anophthalmia plus syndrome	Associated morphology	Absence	true	Inferred relationship	Existential restriction modifier	2

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
3321023011	Anophthalmia plus syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3321024017	Anophthalmia plus syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3321025016	Fryns microphthalmia syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module