63844009: Oculocutaneous albinism (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
\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
\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
\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
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Oculocutaneous albinism
\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
\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

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

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

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

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

Status: current, Primitive. Date: 31-Jul 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

106102018 Oculocutaneous albinism en Synonym Active Case insensitive SNOMED CT core

106104017 Complete perfect albinism en Synonym Active Case insensitive SNOMED CT core

106105016 Albinismus totalis en Synonym Active Case insensitive SNOMED CT core

106106015 Albinismus universalis en Synonym Active Case insensitive SNOMED CT core

106107012 Total albinism en Synonym Active Case insensitive SNOMED CT core

106108019 Complete universal albinism en Synonym Active Case insensitive SNOMED CT core

1232507012 OCA - Oculocutaneous albinism en Synonym Active Case sensitive SNOMED CT core

803172015 Oculocutaneous albinism (disorder) en Fully specified name Active Case insensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Oculocutaneous albinism	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Oculocutaneous albinism	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Oculocutaneous albinism	Finding site	Eye structure	true	Inferred relationship	Some	2
Oculocutaneous albinism	Associated morphology	Hypopigmentation	false	Inferred relationship	Some	2
Oculocutaneous albinism	Associated morphology	Hypopigmentation	false	Inferred relationship	Some	1
Oculocutaneous albinism	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Oculocutaneous albinism	Is a	Autosomal recessive ocular albinism	false	Inferred relationship	Some
Oculocutaneous albinism	Is a	Congenital anomaly of eye	false	Inferred relationship	Some
Oculocutaneous albinism	Associated morphology	Congenital hypopigmentation	false	Inferred relationship	Some	1
Oculocutaneous albinism	Is a	Albinism	true	Inferred relationship	Some
Oculocutaneous albinism	Is a	Congenital deficiency of pigment of skin	false	Inferred relationship	Some
Oculocutaneous albinism	Is a	Congenital anomaly of eye	false	Inferred relationship	Some
Oculocutaneous albinism	Is a	Hereditary disorder of the integument	true	Inferred relationship	Some
Oculocutaneous albinism	Is a	Hereditary disorder of the visual system	true	Inferred relationship	Some
Oculocutaneous albinism	Finding site	Skin structure	false	Inferred relationship	Some	1
Oculocutaneous albinism	Associated morphology	Decreased melanin pigmentation	false	Inferred relationship	Some	1
Oculocutaneous albinism	Finding site	Eye structure	false	Inferred relationship	Some	1
Oculocutaneous albinism	Finding site	Skin structure	true	Inferred relationship	Some	1
Oculocutaneous albinism	Associated morphology	Congenital hypopigmentation	false	Inferred relationship	Some	1
Oculocutaneous albinism	Associated morphology	Decreased melanin pigmentation	true	Inferred relationship	Some	1
Oculocutaneous albinism	Occurrence	Congenital	true	Inferred relationship	Some	2
Oculocutaneous albinism	Is a	Disorder of eye	false	Inferred relationship	Some
Oculocutaneous albinism	Associated morphology	Congenital hypopigmentation	false	Inferred relationship	Some	2
Oculocutaneous albinism	Finding site	Skin structure	false	Inferred relationship	Some	2
Oculocutaneous albinism	Occurrence	Congenital	false	Inferred relationship	Some	3
Oculocutaneous albinism	Associated morphology	Decreased melanin pigmentation	false	Inferred relationship	Some	3
Oculocutaneous albinism	Associated morphology	Decreased melanin pigmentation	true	Inferred relationship	Some	2
Oculocutaneous albinism	Is a	Lesion of eye	false	Inferred relationship	Some
Oculocutaneous albinism	Is a	Anomaly of eye	false	Inferred relationship	Some
Oculocutaneous albinism	Is a	Genetic disorder of skin pigmentation	true	Inferred relationship	Some
Oculocutaneous albinism	Associated morphology	Congenital hypopigmentation	false	Inferred relationship	Some	1
Oculocutaneous albinism	Finding site	Skin structure	false	Inferred relationship	Some	3
Oculocutaneous albinism	Finding site	Structure of skin region	false	Inferred relationship	Some	1
Oculocutaneous albinism	Occurrence	Congenital	false	Inferred relationship	Some
Oculocutaneous albinism	Associated morphology	Congenital deficiency	false	Inferred relationship	Some
Oculocutaneous albinism	Finding site	Eye structure	false	Inferred relationship	Some	1
Oculocutaneous albinism	Is a	Congenital oculocutaneous hypopigmentation	true	Inferred relationship	Some
Oculocutaneous albinism	Occurrence	Congenital	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Cross syndrome	Is a	True	Oculocutaneous albinism	Inferred relationship	Some
Tyrosinase-positive oculocutaneous albinism	Is a	True	Oculocutaneous albinism	Inferred relationship	Some
Black locks, oculocutaneous albinism, AND deafness of the sensorineural type	Is a	True	Oculocutaneous albinism	Inferred relationship	Some
Tyrosinase-negative oculocutaneous albinism	Is a	True	Oculocutaneous albinism	Inferred relationship	Some
Autosomal dominant oculocutaneous albinism	Is a	False	Oculocutaneous albinism	Inferred relationship	Some
Oculocutaneous albinism type 4	Is a	True	Oculocutaneous albinism	Inferred relationship	Some
Microcephaly with albinism and digital anomaly syndrome	Is a	True	Oculocutaneous albinism	Inferred relationship	Some
Oculocutaneous albinism type 5	Is a	True	Oculocutaneous albinism	Inferred relationship	Some
Oculocutaneous albinism type 6	Is a	True	Oculocutaneous albinism	Inferred relationship	Some
Oculocutaneous albinism type 7	Is a	True	Oculocutaneous albinism	Inferred relationship	Some
Oculocutaneous albinism type 1	Is a	True	Oculocutaneous albinism	Inferred relationship	Some

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
106102018	Oculocutaneous albinism	en	Synonym	Active	Case insensitive	SNOMED CT core
106104017	Complete perfect albinism	en	Synonym	Active	Case insensitive	SNOMED CT core
106105016	Albinismus totalis	en	Synonym	Active	Case insensitive	SNOMED CT core
106106015	Albinismus universalis	en	Synonym	Active	Case insensitive	SNOMED CT core
106107012	Total albinism	en	Synonym	Active	Case insensitive	SNOMED CT core
106108019	Complete universal albinism	en	Synonym	Active	Case insensitive	SNOMED CT core
1232507012	OCA - Oculocutaneous albinism	en	Synonym	Active	Case sensitive	SNOMED CT core
803172015	Oculocutaneous albinism (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core