715632003: Oculocutaneous albinism type 4 (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 4
\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 4
\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 4
\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 4
\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 4
\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 4
\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 4

\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 4
\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 4
\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 4
\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 4
\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 4
\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 4
\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 4
\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 4
\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 4
\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 4
\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 4

\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 4
\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 4
\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Lesion of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Oculocutaneous albinism type 4
\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Oculocutaneous albinism type 4

\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Oculocutaneous albinism type 4
\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 4
\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Oculocutaneous albinism type 4

\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Lesion of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Oculocutaneous albinism type 4
\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Oculocutaneous albinism type 4
\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 4
\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 4
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system\Oculocutaneous albinism\Oculocutaneous albinism type 4
\Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Oculocutaneous albinism type 4

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Oculocutaneous albinism\Oculocutaneous albinism type 4
\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 4
\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 4
\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 4
\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 4
\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 4
\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 4
\Integumentary system finding\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Oculocutaneous albinism\Oculocutaneous albinism type 4
\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 4
\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 4

\Disease\Genetic disease\Genetic disorder of skin pigmentation\Oculocutaneous albinism\Oculocutaneous albinism type 4
\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Albinism\Oculocutaneous albinism\Oculocutaneous albinism type 4
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Oculocutaneous albinism\Oculocutaneous albinism type 4
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Oculocutaneous albinism\Oculocutaneous albinism type 4
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Albinism\Oculocutaneous albinism\Oculocutaneous albinism type 4
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Oculocutaneous albinism\Oculocutaneous albinism type 4
\Disease\Disorder of pigmentation\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Oculocutaneous albinism\Oculocutaneous albinism type 4
\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 4
\Disease\Disorder of pigmentation\Disorder of skin pigmentation\Skin hypopigmented\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Oculocutaneous albinism type 4
\Disease\Disorder of pigmentation\Albinism\Oculocutaneous albinism\Oculocutaneous albinism type 4
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Oculocutaneous albinism\Oculocutaneous albinism type 4
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Oculocutaneous albinism\Oculocutaneous albinism type 4
\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 4
\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 4
\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 4
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Oculocutaneous albinism\Oculocutaneous albinism type 4
\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 4
\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 4
\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 4
\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 4
\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 4
\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 4
\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 4
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Oculocutaneous albinism\Oculocutaneous albinism type 4
\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 4
\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 4
\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 4
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Oculocutaneous albinism type 4
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Albinism\Oculocutaneous albinism\Oculocutaneous albinism type 4
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Oculocutaneous albinism type 4
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Oculocutaneous albinism type 4
\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 4
\Disease\Congenital disease\Congenital anomaly\Albinism\Oculocutaneous albinism\Oculocutaneous albinism type 4
\Disease\Congenital disease\Inborn error of metabolism\Albinism\Oculocutaneous albinism\Oculocutaneous albinism type 4
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Oculocutaneous albinism\Oculocutaneous albinism type 4
\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 4
\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 4
\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 4
\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 4
\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 4
\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 4
\Disease\Developmental disorder\Developmental hereditary disorder\Albinism\Oculocutaneous albinism\Oculocutaneous albinism type 4
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Oculocutaneous albinism type 4
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Oculocutaneous albinism type 4
\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 4
\Disease\Developmental disorder\Congenital anomaly\Albinism\Oculocutaneous albinism\Oculocutaneous albinism type 4

Status: current, Primitive. Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3303240010 Oculocutaneous albinism type 4 (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3303241014 Oculocutaneous albinism type 4 en Synonym Active Case insensitive SNOMED CT core

3303242019 A type of Oculocutaneous albinism with varying degrees of skin and hair hypopigmentation, numerous ocular changes and misrouting of the optic nerves at the chiasm. Cutaneous hypopigmentation is often visible at birth and signs of nystagmus and strabismus present in the first year of life. Visual changes are not progressive. Caused by mutations in the membrane-associated transporter protein (MATP) gene, SLC45A2, encoding a transporter protein which is thought to mediate melanin synthesis. Inheritance is autosomal recessive. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Oculocutaneous albinism type 4	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Oculocutaneous albinism type 4	Finding site	Skin structure	true	Inferred relationship	Some	1
Oculocutaneous albinism type 4	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Oculocutaneous albinism type 4	Finding site	Skin structure	false	Inferred relationship	Some	2
Oculocutaneous albinism type 4	Associated morphology	Hypopigmentation	false	Inferred relationship	Some	1
Oculocutaneous albinism type 4	Associated morphology	Hypopigmentation	false	Inferred relationship	Some	2
Oculocutaneous albinism type 4	Associated morphology	Decreased melanin pigmentation	true	Inferred relationship	Some	2
Oculocutaneous albinism type 4	Associated morphology	Decreased melanin pigmentation	true	Inferred relationship	Some	1
Oculocutaneous albinism type 4	Is a	Oculocutaneous albinism	true	Inferred relationship	Some
Oculocutaneous albinism type 4	Is a	Autosomal recessive hereditary disorder	false	Inferred relationship	Some
Oculocutaneous albinism type 4	Associated morphology	Decreased melanin pigmentation	false	Inferred relationship	Some	4
Oculocutaneous albinism type 4	Associated morphology	Congenital hypopigmentation	false	Inferred relationship	Some	4
Oculocutaneous albinism type 4	Finding site	Skin structure	false	Inferred relationship	Some	4
Oculocutaneous albinism type 4	Finding site	Eye structure	false	Inferred relationship	Some	4
Oculocutaneous albinism type 4	Associated morphology	Decreased melanin pigmentation	false	Inferred relationship	Some	5
Oculocutaneous albinism type 4	Occurrence	Congenital	false	Inferred relationship	Some	5
Oculocutaneous albinism type 4	Associated morphology	Congenital hypopigmentation	false	Inferred relationship	Some	6
Oculocutaneous albinism type 4	Occurrence	Congenital	false	Inferred relationship	Some	6
Oculocutaneous albinism type 4	Finding site	Skin structure	false	Inferred relationship	Some	6
Oculocutaneous albinism type 4	Occurrence	Congenital	true	Inferred relationship	Some	2
Oculocutaneous albinism type 4	Finding site	Eye structure	true	Inferred relationship	Some	2
Oculocutaneous albinism type 4	Associated morphology	Congenital hypopigmentation	false	Inferred relationship	Some	1
Oculocutaneous albinism type 4	Finding site	Eye structure	false	Inferred relationship	Some	1
Oculocutaneous albinism type 4	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
3303240010	Oculocutaneous albinism type 4 (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3303241014	Oculocutaneous albinism type 4	en	Synonym	Active	Case insensitive	SNOMED CT core
3303242019	A type of Oculocutaneous albinism with varying degrees of skin and hair hypopigmentation, numerous ocular changes and misrouting of the optic nerves at the chiasm. Cutaneous hypopigmentation is often visible at birth and signs of nystagmus and strabismus present in the first year of life. Visual changes are not progressive. Caused by mutations in the membrane-associated transporter protein (MATP) gene, SLC45A2, encoding a transporter protein which is thought to mediate melanin synthesis. Inheritance is autosomal recessive.	en	Definition	Active	Case sensitive	SNOMED CT core