26399002: Ocular albinism (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Albinism\Ocular albinism
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Ocular albinism
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Albinism\Ocular albinism
\Disease\Disorder of pigmentation\Albinism\Ocular albinism
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Ocular albinism
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Lesion of eye\Ocular albinism
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Ocular albinism
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Ocular albinism
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Ocular albinism
\Disease\Disorder of head\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Lesion of eye\Ocular albinism
\Disease\Disorder of head\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Ocular albinism
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Ocular albinism
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Albinism\Ocular albinism
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Ocular albinism
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Ocular albinism
\Disease\Congenital disease\Congenital malformation\Albinism\Ocular albinism
\Disease\Congenital disease\Inborn error of metabolism\Albinism\Ocular albinism
\Disease\Developmental disorder\Developmental hereditary disorder\Albinism\Ocular albinism
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Ocular albinism
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Ocular albinism
\Disease\Developmental disorder\Congenital malformation\Albinism\Ocular albinism

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2022. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

44215017 Ocular albinism en Synonym Active Entire term case insensitive SNOMED CT core module

483222017 OA - Ocular albinism en Synonym Active Entire term case sensitive SNOMED CT core module

756826015 Ocular albinism (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
Ocular albinism	Is a	Albinism	true	Inferred relationship	Existential restriction modifier
Ocular albinism	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Existential restriction modifier
Ocular albinism	Is a	Hereditary disorder of the visual system	false	Inferred relationship	Existential restriction modifier
Ocular albinism	Is a	Congenital anomaly of eye	false	Inferred relationship	Existential restriction modifier
Ocular albinism	Associated morphology	Congenital anomaly	false	Inferred relationship	Existential restriction modifier	1
Ocular albinism	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	3
Ocular albinism	Finding site	Structure of eye proper	false	Inferred relationship	Existential restriction modifier	1
Ocular albinism	Finding site	Orbital region structure	false	Inferred relationship	Existential restriction modifier	1
Ocular albinism	Finding site	Structure of nervous system	false	Inferred relationship	Existential restriction modifier
Ocular albinism	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier
Ocular albinism	Finding site	Structure of skin region	false	Inferred relationship	Existential restriction modifier	1
Ocular albinism	Associated morphology	Congenital hypopigmentation	false	Inferred relationship	Existential restriction modifier	1
Ocular albinism	Associated morphology	Congenital deficiency	false	Inferred relationship	Existential restriction modifier
Ocular albinism	Associated morphology	Congenital hypopigmentation	false	Inferred relationship	Existential restriction modifier	1
Ocular albinism	Is a	Congenital anomaly of eye	true	Inferred relationship	Existential restriction modifier
Ocular albinism	Is a	Hereditary disorder of the visual system	true	Inferred relationship	Existential restriction modifier
Ocular albinism	Associated morphology	Decreased melanin pigmentation	false	Inferred relationship	Existential restriction modifier	1
Ocular albinism	Finding site	Structure of eye proper	true	Inferred relationship	Existential restriction modifier	1
Ocular albinism	Associated morphology	Congenital hypopigmentation	false	Inferred relationship	Existential restriction modifier	1
Ocular albinism	Associated morphology	Decreased melanin pigmentation	true	Inferred relationship	Existential restriction modifier	1
Ocular albinism	Is a	Disorder of eye proper	false	Inferred relationship	Existential restriction modifier
Ocular albinism	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	2
Ocular albinism	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	3
Ocular albinism	Associated morphology	Decreased melanin pigmentation	false	Inferred relationship	Existential restriction modifier	2
Ocular albinism	Associated morphology	Congenital hypopigmentation	false	Inferred relationship	Existential restriction modifier	3
Ocular albinism	Is a	Lesion of eye	true	Inferred relationship	Existential restriction modifier
Ocular albinism	Is a	Anomaly of eye	false	Inferred relationship	Existential restriction modifier
Ocular albinism	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Ocular albinism	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Aland eye disease and ocular albinism	Is a	True	Ocular albinism	Inferred relationship	Existential restriction modifier
Ocular albinism-lentigines-deafness syndrome	Is a	False	Ocular albinism	Inferred relationship	Existential restriction modifier
Ocular albinism, type I	Is a	True	Ocular albinism	Inferred relationship	Existential restriction modifier
Autosomal recessive ocular albinism	Is a	True	Ocular albinism	Inferred relationship	Existential restriction modifier
Ocular albinism with late-onset sensorineural deafness	Is a	True	Ocular albinism	Inferred relationship	Existential restriction modifier
Ocular albinism with congenital sensorineural deafness	Is a	False	Ocular albinism	Inferred relationship	Existential restriction modifier

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
44215017	Ocular albinism	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
483222017	OA - Ocular albinism	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
756826015	Ocular albinism (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module