733087007: Polydactyly myopia syndrome (disorder)

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

\Finding of limb structure\Disorder of limb (disorder)\...

\Disorder of digit\Congenital anomaly of digit (disorder)\Polydactyly (disorder)\Polydactyly myopia syndrome (disorder)

\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Polydactyly (disorder)\Polydactyly myopia syndrome (disorder)
\Congenital anomaly of limb\Polymelia\Polydactyly (disorder)\Polydactyly myopia syndrome (disorder)

\Eye / vision finding\Visual system disorder\...

\Hereditary disorder of the visual system (disorder)\Polydactyly myopia syndrome (disorder)

\Disorder of vision\Disorder of refraction AND/OR accommodation\Disorder of refraction\Myopia\Polydactyly myopia syndrome (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Polydactyly myopia syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Polydactyly myopia syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Polydactyly myopia syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Polydactyly myopia syndrome (disorder)
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\Polydactyly myopia syndrome (disorder)
\Disease\Disorder of body system\Visual system disorder\Disorder of vision\Disorder of refraction AND/OR accommodation\Disorder of refraction\Myopia\Polydactyly myopia syndrome (disorder)
\Disease\Disorder of limb (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Polydactyly (disorder)\Polydactyly myopia syndrome (disorder)
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Polydactyly (disorder)\Polydactyly myopia syndrome (disorder)
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Polymelia\Polydactyly (disorder)\Polydactyly myopia syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Polydactyly myopia syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Polydactyly (disorder)\Polydactyly myopia syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Polymelia\Polydactyly (disorder)\Polydactyly myopia syndrome (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Polydactyly myopia syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Polydactyly myopia syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Polydactyly (disorder)\Polydactyly myopia syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Polymelia\Polydactyly (disorder)\Polydactyly myopia syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Polydactyly myopia syndrome (disorder)	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Polydactyly myopia syndrome (disorder)	Is a	Multiple malformation syndrome with limb defect as major feature	true	Inferred relationship	Some
Polydactyly myopia syndrome (disorder)	Is a	Myopia	true	Inferred relationship	Some
Polydactyly myopia syndrome (disorder)	Is a	Hereditary disorder of the visual system (disorder)	true	Inferred relationship	Some
Polydactyly myopia syndrome (disorder)	Is a	Polydactyly (disorder)	true	Inferred relationship	Some
Polydactyly myopia syndrome (disorder)	Associated morphology	Supernumerary structure	true	Inferred relationship	Some	2
Polydactyly myopia syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Polydactyly myopia syndrome (disorder)	Finding site	Digit structure	true	Inferred relationship	Some	2
Polydactyly myopia syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	3
Polydactyly myopia syndrome (disorder)	Finding site	Structure of visual system (body structure)	false	Inferred relationship	Some	3
Polydactyly myopia syndrome (disorder)	Finding site	Structure of visual system (body structure)	true	Inferred relationship	Some	1
Polydactyly myopia syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Polydactyly myopia syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Polydactyly myopia syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Polydactyly myopia syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some

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
3498719012	Polydactyly myopia syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3498720018	Polydactyly myopia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3498721019	Czeizel Brooser syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3499966014	An exceedingly rare autosomal dominant developmental anomaly reported in 1986 in nine individuals among four generations of the same family. The syndrome has clinical characteristics of four-limb postaxial polydactyly and progressive myopia. There have been no further descriptions in the literature since 1986.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
14553141000172115	syndrome de Czeizel-Brooser	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
14553151000172118	syndrome de polydactylie et myopie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4976641000172111	syndroom van Czeizel-Brooser	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
4976651000172113	syndroom van polydactylie en myopie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)