716110002: Upper limb defect with eye and ear abnormalities 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\Upper limb defect with eye and ear abnormalities syndrome
\Finding of head and neck region\Head finding\Finding of head region\Ear finding\Disorder of ear\Congenital malformation of ear\Upper limb defect with eye and ear abnormalities syndrome
\Finding of head and neck region\Head finding\Finding of head region\Globe finding\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Upper limb defect with eye and ear abnormalities syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Upper limb defect with eye and ear abnormalities syndrome
\Finding of head and neck region\Head finding\Disorder of head\Congenital anomaly of head\Congenital malformation of ear\Upper limb defect with eye and ear abnormalities syndrome
\Finding of head and neck region\Head finding\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Upper limb defect with eye and ear abnormalities syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of ear\Congenital malformation of ear\Upper limb defect with eye and ear abnormalities syndrome
\Finding of head and neck region\Ear, nose and throat finding\Ear finding\Disorder of ear\Congenital malformation of ear\Upper limb defect with eye and ear abnormalities syndrome
\Finding of head and neck region\Ear, nose and throat finding\Ear, nose and throat disorder\Disorder of ear\Congenital malformation of ear\Upper limb defect with eye and ear abnormalities syndrome

\Ear and auditory finding\Disorder of auditory system\Auditory system hereditary disorder\Upper limb defect with eye and ear abnormalities syndrome
\Ear and auditory finding\Disorder of auditory system\Disorder of ear\Congenital malformation of ear\Upper limb defect with eye and ear abnormalities syndrome
\Ear and auditory finding\Ear finding\Disorder of ear\Congenital malformation of ear\Upper limb defect with eye and ear abnormalities syndrome

\Eye / vision finding\Globe finding\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Upper limb defect with eye and ear abnormalities syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Upper limb defect with eye and ear abnormalities syndrome
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system\Upper limb defect with eye and ear abnormalities syndrome
\Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Upper limb defect with eye and ear abnormalities syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Upper limb defect with eye and ear abnormalities syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\Upper limb defect with eye and ear abnormalities syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Upper limb defect with eye and ear abnormalities syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Upper limb defect with eye and ear abnormalities syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Upper limb defect with eye and ear abnormalities syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Upper limb defect with eye and ear abnormalities syndrome
\Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Upper limb defect with eye and ear abnormalities syndrome
\Disease\Disorder of body system\Disorder of auditory system\Disorder of ear\Congenital malformation of ear\Upper limb defect with eye and ear abnormalities syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Upper limb defect with eye and ear abnormalities syndrome
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Upper limb defect with eye and ear abnormalities syndrome
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Upper limb defect with eye and ear abnormalities syndrome
\Disease\Ear, nose and throat disorder\Disorder of ear\Congenital malformation of ear\Upper limb defect with eye and ear abnormalities syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Upper limb defect with eye and ear abnormalities syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital malformation of ear\Upper limb defect with eye and ear abnormalities syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Upper limb defect with eye and ear abnormalities syndrome
\Disease\Disorder of head\Disorder of ear\Congenital malformation of ear\Upper limb defect with eye and ear abnormalities syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Upper limb defect with eye and ear abnormalities syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Upper limb defect with eye and ear abnormalities syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital malformation of ear\Upper limb defect with eye and ear abnormalities syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Upper limb defect with eye and ear abnormalities syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Upper limb defect with eye and ear abnormalities syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Upper limb defect with eye and ear abnormalities syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Upper limb defect with eye and ear abnormalities syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital malformation of ear\Upper limb defect with eye and ear abnormalities syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Upper limb defect with eye and ear abnormalities syndrome

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2016. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3304769010 Upper limb defect with eye and ear abnormalities syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

3304770011 Upper limb defect with eye and ear abnormalities syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Upper limb defect with eye and ear abnormalities syndrome	Is a	Congenital anomaly of eye	true	Inferred relationship	Existential restriction modifier
Upper limb defect with eye and ear abnormalities syndrome	Is a	Multiple malformation syndrome with limb defect as major feature	true	Inferred relationship	Existential restriction modifier
Upper limb defect with eye and ear abnormalities syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Upper limb defect with eye and ear abnormalities syndrome	Is a	Congenital malformation of ear	true	Inferred relationship	Existential restriction modifier
Upper limb defect with eye and ear abnormalities syndrome	Is a	Auditory system hereditary disorder	true	Inferred relationship	Existential restriction modifier
Upper limb defect with eye and ear abnormalities syndrome	Is a	Hereditary disorder of the visual system	true	Inferred relationship	Existential restriction modifier
Upper limb defect with eye and ear abnormalities syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	2
Upper limb defect with eye and ear abnormalities syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Upper limb defect with eye and ear abnormalities syndrome	Finding site	Ear structure	false	Inferred relationship	Existential restriction modifier	2
Upper limb defect with eye and ear abnormalities syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	3
Upper limb defect with eye and ear abnormalities syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	3
Upper limb defect with eye and ear abnormalities syndrome	Finding site	Structure of eye proper	false	Inferred relationship	Existential restriction modifier	3
Upper limb defect with eye and ear abnormalities syndrome	Finding site	Structure of eye proper	true	Inferred relationship	Existential restriction modifier	2
Upper limb defect with eye and ear abnormalities syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Upper limb defect with eye and ear abnormalities syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	1
Upper limb defect with eye and ear abnormalities syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Upper limb defect with eye and ear abnormalities syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Upper limb defect with eye and ear abnormalities syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	2
Upper limb defect with eye and ear abnormalities syndrome	Finding site	Ear structure	true	Inferred relationship	Existential restriction modifier	1
Upper limb defect with eye and ear abnormalities 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

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Id	Description	Lang	Type	Status	Case?	Module
3304769010	Upper limb defect with eye and ear abnormalities syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3304770011	Upper limb defect with eye and ear abnormalities syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module