722059002: Oculocutaneous albinism type 7 (disorder)

SNOMED CT Concept\Clinical finding\...

\Skin AND/OR mucosa finding\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Oculocutaneous albinism\Oculocutaneous albinism type 7
\Skin AND/OR mucosa finding\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Oculocutaneous albinism type 7
\Skin AND/OR mucosa finding\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Disorder of skin pigmentation\Skin hypopigmented\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Oculocutaneous albinism type 7
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Oculocutaneous albinism type 7
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Oculocutaneous albinism\Oculocutaneous albinism type 7
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Oculocutaneous albinism type 7
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Skin hypopigmented\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Oculocutaneous albinism type 7

\General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Oculocutaneous albinism type 7
\General finding of soft tissue\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Oculocutaneous albinism\Oculocutaneous albinism type 7
\General finding of soft tissue\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Oculocutaneous albinism type 7
\General finding of soft tissue\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Skin hypopigmented\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Oculocutaneous albinism type 7
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Oculocutaneous albinism\Oculocutaneous albinism type 7
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Oculocutaneous albinism type 7
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Disorder of skin pigmentation\Skin hypopigmented\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Oculocutaneous albinism type 7
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Oculocutaneous albinism type 7
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Oculocutaneous albinism\Oculocutaneous albinism type 7
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Oculocutaneous albinism type 7
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Skin hypopigmented\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Oculocutaneous albinism type 7

\Finding of head and neck region\Head finding\...

\Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Oculocutaneous albinism type 7
\Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Oculocutaneous albinism type 7
\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Lesion of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Oculocutaneous albinism type 7
\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Oculocutaneous albinism type 7

\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Oculocutaneous albinism type 7
\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Oculocutaneous albinism type 7
\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Oculocutaneous albinism type 7

\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Lesion of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Oculocutaneous albinism type 7
\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Oculocutaneous albinism type 7
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Oculocutaneous albinism type 7
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Oculocutaneous albinism type 7
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system\Oculocutaneous albinism\Oculocutaneous albinism type 7
\Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Oculocutaneous albinism type 7

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Oculocutaneous albinism\Oculocutaneous albinism type 7
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Oculocutaneous albinism type 7
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Oculocutaneous albinism\Oculocutaneous albinism type 7
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Oculocutaneous albinism type 7
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Skin hypopigmented\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Oculocutaneous albinism type 7
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Oculocutaneous albinism type 7
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Oculocutaneous albinism type 7
\Integumentary system finding\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Oculocutaneous albinism\Oculocutaneous albinism type 7
\Integumentary system finding\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Oculocutaneous albinism type 7
\Integumentary system finding\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Skin hypopigmented\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Oculocutaneous albinism type 7

\Disease\Genetic disease\Genetic disorder of skin pigmentation\Oculocutaneous albinism\Oculocutaneous albinism type 7
\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Albinism\Oculocutaneous albinism\Oculocutaneous albinism type 7
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Oculocutaneous albinism\Oculocutaneous albinism type 7
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Oculocutaneous albinism\Oculocutaneous albinism type 7
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Albinism\Oculocutaneous albinism\Oculocutaneous albinism type 7
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Oculocutaneous albinism\Oculocutaneous albinism type 7
\Disease\Disorder of pigmentation\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Oculocutaneous albinism\Oculocutaneous albinism type 7
\Disease\Disorder of pigmentation\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Oculocutaneous albinism type 7
\Disease\Disorder of pigmentation\Disorder of skin pigmentation\Skin hypopigmented\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Oculocutaneous albinism type 7
\Disease\Disorder of pigmentation\Albinism\Oculocutaneous albinism\Oculocutaneous albinism type 7
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Oculocutaneous albinism\Oculocutaneous albinism type 7
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Oculocutaneous albinism\Oculocutaneous albinism type 7
\Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Oculocutaneous albinism\Oculocutaneous albinism type 7
\Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Oculocutaneous albinism type 7
\Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Disorder of skin pigmentation\Skin hypopigmented\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Oculocutaneous albinism type 7
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Oculocutaneous albinism\Oculocutaneous albinism type 7
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Oculocutaneous albinism type 7
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Oculocutaneous albinism\Oculocutaneous albinism type 7
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Oculocutaneous albinism type 7
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Skin hypopigmented\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Oculocutaneous albinism type 7
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Oculocutaneous albinism type 7
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Oculocutaneous albinism type 7
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Oculocutaneous albinism type 7
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Oculocutaneous albinism\Oculocutaneous albinism type 7
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Oculocutaneous albinism type 7
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Oculocutaneous albinism type 7
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Oculocutaneous albinism type 7
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Oculocutaneous albinism type 7
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Albinism\Oculocutaneous albinism\Oculocutaneous albinism type 7
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Oculocutaneous albinism type 7
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Oculocutaneous albinism type 7
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Oculocutaneous albinism type 7
\Disease\Congenital disease\Congenital anomaly\Albinism\Oculocutaneous albinism\Oculocutaneous albinism type 7
\Disease\Congenital disease\Inborn error of metabolism\Albinism\Oculocutaneous albinism\Oculocutaneous albinism type 7
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Oculocutaneous albinism\Oculocutaneous albinism type 7
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Oculocutaneous albinism type 7
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Disorder of skin pigmentation\Skin hypopigmented\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Oculocutaneous albinism type 7
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Oculocutaneous albinism type 7
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Oculocutaneous albinism\Oculocutaneous albinism type 7
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Oculocutaneous albinism type 7
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Skin hypopigmented\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Oculocutaneous albinism type 7
\Disease\Developmental disorder\Developmental hereditary disorder\Albinism\Oculocutaneous albinism\Oculocutaneous albinism type 7
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Oculocutaneous albinism type 7
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Oculocutaneous albinism type 7
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Oculocutaneous albinism type 7
\Disease\Developmental disorder\Congenital anomaly\Albinism\Oculocutaneous albinism\Oculocutaneous albinism type 7

Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3330419013 Oculocutaneous albinism type 7 (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3330420019 Oculocutaneous albinism type 7 en Synonym Active Case insensitive SNOMED CT core

3330421015 A form of oculocutaneous albinism with characteristics of skin and hair hypopigmentation, nystagmus and iris transillumination. The prevalence is unknown. It has been discovered in several Faroese families and one patient of Lithuanian origin. Patients have a light skin pigmentation that is reported as lighter than their relatives. Caused by mutation in the C10orf11 gene (10q22.3) encoding a 198 amino acid protein. Currently, little is known about the biological function of this gene in humans and its role in this disease pathogenesis. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Oculocutaneous albinism type 7	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Oculocutaneous albinism type 7	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Oculocutaneous albinism type 7	Finding site	Skin structure	true	Inferred relationship	Some	1
Oculocutaneous albinism type 7	Finding site	Skin structure	false	Inferred relationship	Some	2
Oculocutaneous albinism type 7	Associated morphology	Hypopigmentation	false	Inferred relationship	Some	1
Oculocutaneous albinism type 7	Associated morphology	Hypopigmentation	false	Inferred relationship	Some	2
Oculocutaneous albinism type 7	Associated morphology	Decreased melanin pigmentation	true	Inferred relationship	Some	2
Oculocutaneous albinism type 7	Associated morphology	Decreased melanin pigmentation	true	Inferred relationship	Some	1
Oculocutaneous albinism type 7	Is a	Oculocutaneous albinism	true	Inferred relationship	Some
Oculocutaneous albinism type 7	Is a	Autosomal recessive hereditary disorder	false	Inferred relationship	Some
Oculocutaneous albinism type 7	Associated morphology	Decreased melanin pigmentation	false	Inferred relationship	Some	4
Oculocutaneous albinism type 7	Occurrence	Congenital	false	Inferred relationship	Some	5
Oculocutaneous albinism type 7	Associated morphology	Congenital hypopigmentation	false	Inferred relationship	Some	6
Oculocutaneous albinism type 7	Finding site	Skin structure	false	Inferred relationship	Some	6
Oculocutaneous albinism type 7	Associated morphology	Decreased melanin pigmentation	false	Inferred relationship	Some	5
Oculocutaneous albinism type 7	Occurrence	Congenital	false	Inferred relationship	Some	6
Oculocutaneous albinism type 7	Associated morphology	Congenital hypopigmentation	false	Inferred relationship	Some	4
Oculocutaneous albinism type 7	Finding site	Skin structure	false	Inferred relationship	Some	4
Oculocutaneous albinism type 7	Finding site	Eye structure	false	Inferred relationship	Some	4
Oculocutaneous albinism type 7	Occurrence	Congenital	true	Inferred relationship	Some	2
Oculocutaneous albinism type 7	Finding site	Eye structure	true	Inferred relationship	Some	2
Oculocutaneous albinism type 7	Associated morphology	Congenital hypopigmentation	false	Inferred relationship	Some	1
Oculocutaneous albinism type 7	Finding site	Eye structure	false	Inferred relationship	Some	1
Oculocutaneous albinism type 7	Occurrence	Congenital	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3330419013	Oculocutaneous albinism type 7 (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3330420019	Oculocutaneous albinism type 7	en	Synonym	Active	Case insensitive	SNOMED CT core
3330421015	A form of oculocutaneous albinism with characteristics of skin and hair hypopigmentation, nystagmus and iris transillumination. The prevalence is unknown. It has been discovered in several Faroese families and one patient of Lithuanian origin. Patients have a light skin pigmentation that is reported as lighter than their relatives. Caused by mutation in the C10orf11 gene (10q22.3) encoding a 198 amino acid protein. Currently, little is known about the biological function of this gene in humans and its role in this disease pathogenesis.	en	Definition	Active	Case sensitive	SNOMED CT core