773769008: Ataxia, photosensitivity, short stature syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Effect of exposure to physical force\Disorders of skin caused by physical agents\Ataxia, photosensitivity, short stature syndrome
\Effect of exposure to physical force\Photosensitivity\Ataxia, photosensitivity, short stature syndrome

\Skin AND/OR mucosa finding\Skin finding\...

\Disorder of skin\Disorders of skin caused by physical agents\Ataxia, photosensitivity, short stature syndrome

\Photosensitivity\Ataxia, photosensitivity, short stature syndrome

\Mental state, behavior and/or psychosocial function finding\Behavior finding\Intellectual disability\Ataxia, photosensitivity, short stature syndrome

\Finding related to coordination / incoordination\Ataxia\Ataxia, photosensitivity, short stature syndrome

\Finding of general physiological development\Disorder of stature\Short stature disorder\Ataxia, photosensitivity, short stature syndrome

\General finding of soft tissue\Skin finding\Disorder of skin\Disorders of skin caused by physical agents\Ataxia, photosensitivity, short stature syndrome
\General finding of soft tissue\Skin finding\Photosensitivity\Ataxia, photosensitivity, short stature syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorders of skin caused by physical agents\Ataxia, photosensitivity, short stature syndrome

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Ataxia, photosensitivity, short stature syndrome
\Functional finding\Cognitive function finding\Finding of intellectual ability\Intellectual disability\Ataxia, photosensitivity, short stature syndrome
\Functional finding\Intelligence finding\Finding of intellectual ability\Intellectual disability\Ataxia, photosensitivity, short stature syndrome

\General finding of observation of patient\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Ataxia, photosensitivity, short stature syndrome

\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorders of skin caused by physical agents\Ataxia, photosensitivity, short stature syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Disorders of skin caused by physical agents\Ataxia, photosensitivity, short stature syndrome
\Integumentary system finding\Skin finding\Photosensitivity\Ataxia, photosensitivity, short stature syndrome

\Disease\Genetic disease\Ataxia, photosensitivity, short stature syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorders of skin caused by physical agents\Ataxia, photosensitivity, short stature syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Ataxia, photosensitivity, short stature syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorders of skin caused by physical agents\Ataxia, photosensitivity, short stature syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Ataxia, photosensitivity, short stature syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Ataxia, photosensitivity, short stature syndrome
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Ataxia, photosensitivity, short stature syndrome

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2019. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3726290016 Ataxia, photosensitivity, short stature syndrome en Synonym Active Entire term case insensitive SNOMED CT core module
3726291017 Fenton Wilkinson Toselano syndrome en Synonym Active Entire term case sensitive SNOMED CT core module
3726292012 Ataxia, photosensitivity, short stature syndrome (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
Ataxia, photosensitivity, short stature syndrome	Causative agent	Light, electromagnetic radiation	true	Inferred relationship	Existential restriction modifier	2
Ataxia, photosensitivity, short stature syndrome	Is a	Disorders of skin caused by physical agents	true	Inferred relationship	Existential restriction modifier
Ataxia, photosensitivity, short stature syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Ataxia, photosensitivity, short stature syndrome	Is a	Hereditary ataxia	false	Inferred relationship	Existential restriction modifier
Ataxia, photosensitivity, short stature syndrome	Is a	Intellectual disability	true	Inferred relationship	Existential restriction modifier
Ataxia, photosensitivity, short stature syndrome	Is a	Short stature disorder	true	Inferred relationship	Existential restriction modifier
Ataxia, photosensitivity, short stature syndrome	Is a	Photosensitivity	true	Inferred relationship	Existential restriction modifier
Ataxia, photosensitivity, short stature syndrome	Is a	Hereditary disorder of the integument	false	Inferred relationship	Existential restriction modifier
Ataxia, photosensitivity, short stature syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	1
Ataxia, photosensitivity, short stature syndrome	Is a	Multiple system malformation syndrome	true	Inferred relationship	Existential restriction modifier
Ataxia, photosensitivity, short stature syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Ataxia, photosensitivity, short stature syndrome	Finding site	Skin structure	true	Inferred relationship	Existential restriction modifier	2
Ataxia, photosensitivity, short stature syndrome	Is a	Developmental hereditary disorder	false	Inferred relationship	Existential restriction modifier
Ataxia, photosensitivity, short stature syndrome	Interprets	Height / growth measure	true	Inferred relationship	Existential restriction modifier	3
Ataxia, photosensitivity, short stature syndrome	Is a	Ataxia	true	Inferred relationship	Existential restriction modifier
Ataxia, photosensitivity, short stature syndrome	Is a	Genetic disease	true	Inferred relationship	Existential restriction modifier
Ataxia, photosensitivity, short stature syndrome	Interprets	Intellectual ability	true	Inferred relationship	Existential restriction modifier	4
Ataxia, photosensitivity, short stature syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	4
Ataxia, photosensitivity, short stature syndrome	Interprets	Adaptation behavior	true	Inferred relationship	Existential restriction modifier	5
Ataxia, photosensitivity, short stature syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	5

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
3726290016	Ataxia, photosensitivity, short stature syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3726291017	Fenton Wilkinson Toselano syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3726292012	Ataxia, photosensitivity, short stature syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module