703403003: Ophthalmo-acromelic 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\Ophthalmo-acromelic syndrome
\Finding of head region\Globe finding\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Ophthalmo-acromelic syndrome

\Disorder of head\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Ophthalmo-acromelic syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Ophthalmo-acromelic syndrome

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

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Ophthalmo-acromelic syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Ophthalmo-acromelic syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Ophthalmo-acromelic syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Ophthalmo-acromelic syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Ophthalmo-acromelic syndrome
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Ophthalmo-acromelic syndrome
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Ophthalmo-acromelic syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Ophthalmo-acromelic syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Ophthalmo-acromelic syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Ophthalmo-acromelic syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Ophthalmo-acromelic syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Ophthalmo-acromelic syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Ophthalmo-acromelic syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Ophthalmo-acromelic syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Ophthalmo-acromelic syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Ophthalmo-acromelic syndrome

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2014. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3008368011 Anophthalmos with limb anomalies en Synonym Active Entire term case insensitive SNOMED CT core module

3008370019 Anophthalmia-syndactyly en Synonym Active Entire term case insensitive SNOMED CT core module

3008373017 Syndactyly-anophthalmos syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

3008391010 Ophthalmoacromelic syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

3008401018 Anophthalmia-Waardenburg syndrome en Synonym Active Only initial character case insensitive SNOMED CT core module

3008429015 Ophthalmo-acromelic syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

3008436019 Waardenburg anophthalmia syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

3008470018 Microphthalmia with limb anomalies en Synonym Active Entire term case insensitive SNOMED CT core module

3008494018 Anophthalmos-limb anomalies syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

3008543010 Ophthalmo-acromelic syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Ophthalmo-acromelic syndrome	Is a	Congenital anomaly of eye	true	Inferred relationship	Existential restriction modifier
Ophthalmo-acromelic syndrome	Is a	Hereditary disorder of the visual system	true	Inferred relationship	Existential restriction modifier
Ophthalmo-acromelic syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Ophthalmo-acromelic syndrome	Is a	Multiple malformation syndrome with limb defect as major feature	true	Inferred relationship	Existential restriction modifier
Ophthalmo-acromelic syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Ophthalmo-acromelic syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	1
Ophthalmo-acromelic syndrome	Finding site	Structure of eye proper	true	Inferred relationship	Existential restriction modifier	1
Ophthalmo-acromelic syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Ophthalmo-acromelic syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	1
Ophthalmo-acromelic 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
3008368011	Anophthalmos with limb anomalies	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3008370019	Anophthalmia-syndactyly	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3008373017	Syndactyly-anophthalmos syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3008391010	Ophthalmoacromelic syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3008401018	Anophthalmia-Waardenburg syndrome	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
3008429015	Ophthalmo-acromelic syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3008436019	Waardenburg anophthalmia syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3008470018	Microphthalmia with limb anomalies	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3008494018	Anophthalmos-limb anomalies syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3008543010	Ophthalmo-acromelic syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module