702433001: Congenital cataracts, facial dysmorphism and neuropathy (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\Congenital cataracts, facial dysmorphism and neuropathy
\Finding of head region\Globe finding\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Congenital cataracts, facial dysmorphism and neuropathy

\Disorder of head\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Congenital cataracts, facial dysmorphism and neuropathy
\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Congenital cataracts, facial dysmorphism and neuropathy

\Eye / vision finding\Globe finding\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Congenital cataracts, facial dysmorphism and neuropathy
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Congenital cataracts, facial dysmorphism and neuropathy
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system\Congenital cataracts, facial dysmorphism and neuropathy
\Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital cataracts, facial dysmorphism and neuropathy

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Congenital cataracts, facial dysmorphism and neuropathy
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Congenital cataracts, facial dysmorphism and neuropathy
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Congenital cataracts, facial dysmorphism and neuropathy
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Congenital cataracts, facial dysmorphism and neuropathy
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Congenital cataracts, facial dysmorphism and neuropathy
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Congenital cataracts, facial dysmorphism and neuropathy
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Congenital cataracts, facial dysmorphism and neuropathy
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Congenital cataracts, facial dysmorphism and neuropathy
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital cataracts, facial dysmorphism and neuropathy
\Disease\Disorder of body system\Disorder of nervous system\Hereditary disorder of nervous system\Congenital cataracts, facial dysmorphism and neuropathy
\Disease\Disorder of body system\Disorder of nervous system\Congenital anomaly of nervous system\Congenital anomaly of the peripheral nervous system\Congenital cataracts, facial dysmorphism and neuropathy
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the peripheral nervous system\Congenital anomaly of the peripheral nervous system\Congenital cataracts, facial dysmorphism and neuropathy
\Disease\Disorder of head\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Congenital cataracts, facial dysmorphism and neuropathy
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Congenital cataracts, facial dysmorphism and neuropathy
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital cataracts, facial dysmorphism and neuropathy
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of the peripheral nervous system\Congenital cataracts, facial dysmorphism and neuropathy
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital cataracts, facial dysmorphism and neuropathy
\Disease\Developmental disorder\Developmental hereditary disorder\Congenital cataracts, facial dysmorphism and neuropathy
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital cataracts, facial dysmorphism and neuropathy
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of the peripheral nervous system\Congenital cataracts, facial dysmorphism and neuropathy
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital cataracts, facial dysmorphism and neuropathy

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

2995306017 CCFDN - congenital cataracts, facial dysmorphism and neuropathy en Synonym Active Entire term case sensitive SNOMED CT core module

2995512014 Congenital cataracts, facial dysmorphism and neuropathy en Synonym Active Entire term case insensitive SNOMED CT core module

2995780011 Congenital cataracts, facial dysmorphism and neuropathy (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital cataracts, facial dysmorphism and neuropathy	Is a	Congenital anomaly of eye	true	Inferred relationship	Existential restriction modifier
Congenital cataracts, facial dysmorphism and neuropathy	Is a	Hereditary disorder of the visual system	true	Inferred relationship	Existential restriction modifier
Congenital cataracts, facial dysmorphism and neuropathy	Is a	Congenital anomaly of the peripheral nervous system	true	Inferred relationship	Existential restriction modifier
Congenital cataracts, facial dysmorphism and neuropathy	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Existential restriction modifier
Congenital cataracts, facial dysmorphism and neuropathy	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Congenital cataracts, facial dysmorphism and neuropathy	Finding site	Peripheral nervous system structure	false	Inferred relationship	Existential restriction modifier	3
Congenital cataracts, facial dysmorphism and neuropathy	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	3
Congenital cataracts, facial dysmorphism and neuropathy	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	3
Congenital cataracts, facial dysmorphism and neuropathy	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Congenital cataracts, facial dysmorphism and neuropathy	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	2
Congenital cataracts, facial dysmorphism and neuropathy	Finding site	Structure of eye proper	false	Inferred relationship	Existential restriction modifier	2
Congenital cataracts, facial dysmorphism and neuropathy	Finding site	Peripheral nervous system structure	true	Inferred relationship	Existential restriction modifier	2
Congenital cataracts, facial dysmorphism and neuropathy	Finding site	Structure of eye proper	true	Inferred relationship	Existential restriction modifier	1
Congenital cataracts, facial dysmorphism and neuropathy	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Congenital cataracts, facial dysmorphism and neuropathy	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Congenital cataracts, facial dysmorphism and neuropathy	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Congenital cataracts, facial dysmorphism and neuropathy	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	1
Congenital cataracts, facial dysmorphism and neuropathy	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	2
Congenital cataracts, facial dysmorphism and neuropathy	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
2995306017	CCFDN - congenital cataracts, facial dysmorphism and neuropathy	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
2995512014	Congenital cataracts, facial dysmorphism and neuropathy	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
2995780011	Congenital cataracts, facial dysmorphism and neuropathy (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module