702433001: Congenital cataracts, facial dysmorphism and neuropathy (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

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

\Eye / vision finding\Globe finding (finding)\Disorder of eye proper (disorder)\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 (disorder)\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 (disorder)\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\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\Congenital cataracts, facial dysmorphism and neuropathy
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of the visual system (disorder)\Congenital cataracts, facial dysmorphism and neuropathy
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\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 foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital cataracts, facial dysmorphism and neuropathy
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of the peripheral nervous system\Congenital cataracts, facial dysmorphism and neuropathy
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital cataracts, facial dysmorphism and neuropathy
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of the visual system (disorder)\Congenital cataracts, facial dysmorphism and neuropathy
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Congenital cataracts, facial dysmorphism and neuropathy
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\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 (disorder)\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\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Congenital cataracts, facial dysmorphism and neuropathy
\Disease\Disorder of body system\Disease of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of the peripheral nervous system\Congenital cataracts, facial dysmorphism and neuropathy
\Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the peripheral nervous system (disorder)\Congenital anomaly of the peripheral nervous system\Congenital cataracts, facial dysmorphism and neuropathy
\Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\Congenital cataracts, facial dysmorphism and neuropathy
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Congenital cataracts, facial dysmorphism and neuropathy
\Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Congenital cataracts, facial dysmorphism and neuropathy
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital cataracts, facial dysmorphism and neuropathy
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of the peripheral nervous system\Congenital cataracts, facial dysmorphism and neuropathy
\Disease\Developmental disorder (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 (core metadata concept). Date: 31-Jul 2014. Module: SNOMED CT core

Descriptions:

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 (core metadata concept)
Congenital cataracts, facial dysmorphism and neuropathy	Is a	Hereditary disorder of the visual system (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital cataracts, facial dysmorphism and neuropathy	Is a	Congenital anomaly of the peripheral nervous system	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital cataracts, facial dysmorphism and neuropathy	Is a	Hereditary disorder of nervous system (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital cataracts, facial dysmorphism and neuropathy	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital cataracts, facial dysmorphism and neuropathy	Finding site	Peripheral nervous system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Congenital cataracts, facial dysmorphism and neuropathy	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Congenital cataracts, facial dysmorphism and neuropathy	Associated morphology	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Congenital cataracts, facial dysmorphism and neuropathy	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital cataracts, facial dysmorphism and neuropathy	Associated morphology	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital cataracts, facial dysmorphism and neuropathy	Finding site	Eye structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital cataracts, facial dysmorphism and neuropathy	Finding site	Peripheral nervous system structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital cataracts, facial dysmorphism and neuropathy	Finding site	Eye structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital cataracts, facial dysmorphism and neuropathy	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital cataracts, facial dysmorphism and neuropathy	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital cataracts, facial dysmorphism and neuropathy	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital cataracts, facial dysmorphism and neuropathy	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital cataracts, facial dysmorphism and neuropathy	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital cataracts, facial dysmorphism and neuropathy	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)

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 (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2995512014	Congenital cataracts, facial dysmorphism and neuropathy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2995780011	Congenital cataracts, facial dysmorphism and neuropathy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2995306017	CCFDN - congenital cataracts, facial dysmorphism and neuropathy	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2995512014	Congenital cataracts, facial dysmorphism and neuropathy	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2995512014	Congenital cataracts, facial dysmorphism and neuropathy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2995780011	Congenital cataracts, facial dysmorphism and neuropathy (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2995780011	Congenital cataracts, facial dysmorphism and neuropathy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
600511000274116	CCFDN-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3432371001000111	Kongenitale Katarakt-Gesichtsdysmorphie-Neuropathie-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5449021000241116	cataracte congénitale, dysmorphie faciale et neuropathie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5449021000241116	cataracte congénitale, dysmorphie faciale et neuropathie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
600511000274116	CCFDN-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3432371001000111	Kongenitale Katarakt-Gesichtsdysmorphie-Neuropathie-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module