26336006: Tyrosinase-positive oculocutaneous albinism (disorder)

SNOMED CT Concept\constatation clinique\...

\Skin AND/OR mucosa finding (finding)\lésion de la peau ou d'une muqueuse\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\Oculocutaneous albinism\albinisme oculo-cutané type 2 (trouble)
\Skin AND/OR mucosa finding (finding)\lésion de la peau ou d'une muqueuse\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Disorder of skin pigmentation (disorder)\anomalies congénitales de pigmentation de la peau\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\albinisme oculo-cutané type 2 (trouble)
\Skin AND/OR mucosa finding (finding)\lésion de la peau ou d'une muqueuse\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Disorder of skin pigmentation (disorder)\hypopigmentation cutanée\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\albinisme oculo-cutané type 2 (trouble)
\Skin AND/OR mucosa finding (finding)\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\anomalies congénitales de pigmentation de la peau\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\albinisme oculo-cutané type 2 (trouble)
\Skin AND/OR mucosa finding (finding)\Skin finding\affection de la peau (trouble)\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\Oculocutaneous albinism\albinisme oculo-cutané type 2 (trouble)
\Skin AND/OR mucosa finding (finding)\Skin finding\affection de la peau (trouble)\Skin lesion\Disorder of skin pigmentation (disorder)\anomalies congénitales de pigmentation de la peau\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\albinisme oculo-cutané type 2 (trouble)
\Skin AND/OR mucosa finding (finding)\Skin finding\affection de la peau (trouble)\Skin lesion\Disorder of skin pigmentation (disorder)\hypopigmentation cutanée\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\albinisme oculo-cutané type 2 (trouble)

\constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\anomalies congénitales de pigmentation de la peau\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\albinisme oculo-cutané type 2 (trouble)
\constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\Oculocutaneous albinism\albinisme oculo-cutané type 2 (trouble)
\constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Skin lesion\Disorder of skin pigmentation (disorder)\anomalies congénitales de pigmentation de la peau\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\albinisme oculo-cutané type 2 (trouble)
\constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Skin lesion\Disorder of skin pigmentation (disorder)\hypopigmentation cutanée\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\albinisme oculo-cutané type 2 (trouble)
\constatation générale à propos des tissus mous\Disorder of soft tissue\lésion de tissu mou\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\Oculocutaneous albinism\albinisme oculo-cutané type 2 (trouble)
\constatation générale à propos des tissus mous\Disorder of soft tissue\lésion de tissu mou\Skin lesion\Disorder of skin pigmentation (disorder)\anomalies congénitales de pigmentation de la peau\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\albinisme oculo-cutané type 2 (trouble)
\constatation générale à propos des tissus mous\Disorder of soft tissue\lésion de tissu mou\Skin lesion\Disorder of skin pigmentation (disorder)\hypopigmentation cutanée\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\albinisme oculo-cutané type 2 (trouble)
\constatation générale à propos des tissus mous\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\anomalies congénitales de pigmentation de la peau\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\albinisme oculo-cutané type 2 (trouble)
\constatation générale à propos des tissus mous\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\Oculocutaneous albinism\albinisme oculo-cutané type 2 (trouble)
\constatation générale à propos des tissus mous\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Skin lesion\Disorder of skin pigmentation (disorder)\anomalies congénitales de pigmentation de la peau\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\albinisme oculo-cutané type 2 (trouble)
\constatation générale à propos des tissus mous\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Skin lesion\Disorder of skin pigmentation (disorder)\hypopigmentation cutanée\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\albinisme oculo-cutané type 2 (trouble)

\constatation à propos d'une région de la tête et du cou\Head finding (finding)\...

\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\albinisme oculo-cutané type 2 (trouble)
\Finding of head region\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\albinisme oculo-cutané type 2 (trouble)
\Finding of head region\constatation à propos d'un globe oculaire\Lesion of eye structure\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\albinisme oculo-cutané type 2 (trouble)

\affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\albinisme oculo-cutané type 2 (trouble)
\affection de la tête\Congenital anomaly of head\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\albinisme oculo-cutané type 2 (trouble)

\constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\albinisme oculo-cutané type 2 (trouble)
\constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Lesion of eye structure\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\albinisme oculo-cutané type 2 (trouble)
\constatation à propos des yeux ou de la vue\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\albinisme oculo-cutané type 2 (trouble)
\constatation à propos des yeux ou de la vue\affection du système visuel\Hereditary disorder of the visual system\Oculocutaneous albinism\albinisme oculo-cutané type 2 (trouble)
\constatation à propos des yeux ou de la vue\affection du système visuel\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\albinisme oculo-cutané type 2 (trouble)

\Integumentary system finding\troubles tégumentaires\Hereditary disorder of the integument\Genetic disorder of skin pigmentation (disorder)\Oculocutaneous albinism\albinisme oculo-cutané type 2 (trouble)
\Integumentary system finding\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\anomalies congénitales de pigmentation de la peau\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\albinisme oculo-cutané type 2 (trouble)
\Integumentary system finding\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\Oculocutaneous albinism\albinisme oculo-cutané type 2 (trouble)
\Integumentary system finding\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Skin lesion\Disorder of skin pigmentation (disorder)\anomalies congénitales de pigmentation de la peau\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\albinisme oculo-cutané type 2 (trouble)
\Integumentary system finding\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Skin lesion\Disorder of skin pigmentation (disorder)\hypopigmentation cutanée\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\albinisme oculo-cutané type 2 (trouble)
\Integumentary system finding\troubles tégumentaires\Congenital anomaly of integument\Congenital anomaly of skin\anomalies congénitales de pigmentation de la peau\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\albinisme oculo-cutané type 2 (trouble)
\Integumentary system finding\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\anomalies congénitales de pigmentation de la peau\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\albinisme oculo-cutané type 2 (trouble)
\Integumentary system finding\Skin finding\affection de la peau (trouble)\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\Oculocutaneous albinism\albinisme oculo-cutané type 2 (trouble)
\Integumentary system finding\Skin finding\affection de la peau (trouble)\Skin lesion\Disorder of skin pigmentation (disorder)\anomalies congénitales de pigmentation de la peau\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\albinisme oculo-cutané type 2 (trouble)
\Integumentary system finding\Skin finding\affection de la peau (trouble)\Skin lesion\Disorder of skin pigmentation (disorder)\hypopigmentation cutanée\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\albinisme oculo-cutané type 2 (trouble)

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the visual system\Oculocutaneous albinism\albinisme oculo-cutané type 2 (trouble)
\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the integument\Genetic disorder of skin pigmentation (disorder)\Oculocutaneous albinism\albinisme oculo-cutané type 2 (trouble)
\Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Albinism\Oculocutaneous albinism\albinisme oculo-cutané type 2 (trouble)
\Disease\Genetic disease\maladie héréditaire\Inborn error of metabolism\Albinism\Oculocutaneous albinism\albinisme oculo-cutané type 2 (trouble)
\Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Oculocutaneous albinism\albinisme oculo-cutané type 2 (trouble)
\Disease\trouble de la pigmentation\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\Oculocutaneous albinism\albinisme oculo-cutané type 2 (trouble)
\Disease\trouble de la pigmentation\Disorder of skin pigmentation (disorder)\anomalies congénitales de pigmentation de la peau\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\albinisme oculo-cutané type 2 (trouble)
\Disease\trouble de la pigmentation\Disorder of skin pigmentation (disorder)\hypopigmentation cutanée\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\albinisme oculo-cutané type 2 (trouble)
\Disease\trouble de la pigmentation\Albinism\Oculocutaneous albinism\albinisme oculo-cutané type 2 (trouble)
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the visual system\Oculocutaneous albinism\albinisme oculo-cutané type 2 (trouble)
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the integument\Genetic disorder of skin pigmentation (disorder)\Oculocutaneous albinism\albinisme oculo-cutané type 2 (trouble)
\Disease\affection d'un système corporel\troubles tégumentaires\Hereditary disorder of the integument\Genetic disorder of skin pigmentation (disorder)\Oculocutaneous albinism\albinisme oculo-cutané type 2 (trouble)
\Disease\affection d'un système corporel\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\anomalies congénitales de pigmentation de la peau\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\albinisme oculo-cutané type 2 (trouble)
\Disease\affection d'un système corporel\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\Oculocutaneous albinism\albinisme oculo-cutané type 2 (trouble)
\Disease\affection d'un système corporel\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Skin lesion\Disorder of skin pigmentation (disorder)\anomalies congénitales de pigmentation de la peau\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\albinisme oculo-cutané type 2 (trouble)
\Disease\affection d'un système corporel\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Skin lesion\Disorder of skin pigmentation (disorder)\hypopigmentation cutanée\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\albinisme oculo-cutané type 2 (trouble)
\Disease\affection d'un système corporel\troubles tégumentaires\Congenital anomaly of integument\Congenital anomaly of skin\anomalies congénitales de pigmentation de la peau\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\albinisme oculo-cutané type 2 (trouble)
\Disease\affection d'un système corporel\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\albinisme oculo-cutané type 2 (trouble)
\Disease\affection d'un système corporel\affection du système visuel\Hereditary disorder of the visual system\Oculocutaneous albinism\albinisme oculo-cutané type 2 (trouble)
\Disease\affection d'un système corporel\affection du système visuel\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\albinisme oculo-cutané type 2 (trouble)
\Disease\affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\albinisme oculo-cutané type 2 (trouble)
\Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\albinisme oculo-cutané type 2 (trouble)
\Disease\trouble métabolique\Inborn error of metabolism\Albinism\Oculocutaneous albinism\albinisme oculo-cutané type 2 (trouble)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\albinisme oculo-cutané type 2 (trouble)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\albinisme oculo-cutané type 2 (trouble)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\anomalies congénitales de pigmentation de la peau\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\albinisme oculo-cutané type 2 (trouble)
\Disease\Congenital disease\Congenital malformation\Albinism\Oculocutaneous albinism\albinisme oculo-cutané type 2 (trouble)
\Disease\Congenital disease\Inborn error of metabolism\Albinism\Oculocutaneous albinism\albinisme oculo-cutané type 2 (trouble)
\Disease\Disorder of soft tissue\lésion de tissu mou\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\Oculocutaneous albinism\albinisme oculo-cutané type 2 (trouble)
\Disease\Disorder of soft tissue\lésion de tissu mou\Skin lesion\Disorder of skin pigmentation (disorder)\anomalies congénitales de pigmentation de la peau\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\albinisme oculo-cutané type 2 (trouble)
\Disease\Disorder of soft tissue\lésion de tissu mou\Skin lesion\Disorder of skin pigmentation (disorder)\hypopigmentation cutanée\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\albinisme oculo-cutané type 2 (trouble)
\Disease\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\anomalies congénitales de pigmentation de la peau\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\albinisme oculo-cutané type 2 (trouble)
\Disease\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\Oculocutaneous albinism\albinisme oculo-cutané type 2 (trouble)
\Disease\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Skin lesion\Disorder of skin pigmentation (disorder)\anomalies congénitales de pigmentation de la peau\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\albinisme oculo-cutané type 2 (trouble)
\Disease\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Skin lesion\Disorder of skin pigmentation (disorder)\hypopigmentation cutanée\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\albinisme oculo-cutané type 2 (trouble)
\Disease\trouble du développement\Developmental hereditary disorder\Albinism\Oculocutaneous albinism\albinisme oculo-cutané type 2 (trouble)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\albinisme oculo-cutané type 2 (trouble)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\albinisme oculo-cutané type 2 (trouble)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\anomalies congénitales de pigmentation de la peau\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\albinisme oculo-cutané type 2 (trouble)
\Disease\trouble du développement\Congenital malformation\Albinism\Oculocutaneous albinism\albinisme oculo-cutané type 2 (trouble)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
albinisme oculo-cutané type 2 (trouble)	localisation d'une constatation (attribut)	Structure of eye proper (body structure)	true	Inferred relationship	Some	2
albinisme oculo-cutané type 2 (trouble)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
albinisme oculo-cutané type 2 (trouble)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
albinisme oculo-cutané type 2 (trouble)	morphologie associée (attribut)	Hypopigmentation	false	Inferred relationship	Some	1
albinisme oculo-cutané type 2 (trouble)	morphologie associée (attribut)	Hypopigmentation	false	Inferred relationship	Some	2
albinisme oculo-cutané type 2 (trouble)	est un(e) (attribut)	Oculocutaneous albinism	true	Inferred relationship	Some
albinisme oculo-cutané type 2 (trouble)	morphologie associée (attribut)	Congenital hypopigmentation	false	Inferred relationship	Some	1
albinisme oculo-cutané type 2 (trouble)	Due to	Disorder of tyrosine metabolism (disorder)	false	Inferred relationship	Some
albinisme oculo-cutané type 2 (trouble)	morphologie associée (attribut)	Decreased melanin pigmentation	false	Inferred relationship	Some	1
albinisme oculo-cutané type 2 (trouble)	localisation d'une constatation (attribut)	structure de la peau	true	Inferred relationship	Some	1
albinisme oculo-cutané type 2 (trouble)	localisation d'une constatation (attribut)	Structure of eye proper (body structure)	false	Inferred relationship	Some	1
albinisme oculo-cutané type 2 (trouble)	morphologie associée (attribut)	Congenital hypopigmentation	false	Inferred relationship	Some	1
albinisme oculo-cutané type 2 (trouble)	morphologie associée (attribut)	Decreased melanin pigmentation	true	Inferred relationship	Some	1
albinisme oculo-cutané type 2 (trouble)	localisation d'une constatation (attribut)	structure de la peau	false	Inferred relationship	Some	1
albinisme oculo-cutané type 2 (trouble)	morphologie associée (attribut)	Congenital hypopigmentation	false	Inferred relationship	Some	1
albinisme oculo-cutané type 2 (trouble)	localisation d'une constatation (attribut)	structure de la peau	false	Inferred relationship	Some	3
albinisme oculo-cutané type 2 (trouble)	survenue (attribut)	congénital	true	Inferred relationship	Some	2
albinisme oculo-cutané type 2 (trouble)	morphologie associée (attribut)	Congenital hypopigmentation	false	Inferred relationship	Some	2
albinisme oculo-cutané type 2 (trouble)	localisation d'une constatation (attribut)	structure de la peau	false	Inferred relationship	Some	2
albinisme oculo-cutané type 2 (trouble)	survenue (attribut)	congénital	false	Inferred relationship	Some	3
albinisme oculo-cutané type 2 (trouble)	morphologie associée (attribut)	Decreased melanin pigmentation	false	Inferred relationship	Some	3
albinisme oculo-cutané type 2 (trouble)	morphologie associée (attribut)	Decreased melanin pigmentation	true	Inferred relationship	Some	2
albinisme oculo-cutané type 2 (trouble)	survenue (attribut)	congénital	false	Inferred relationship	Some
albinisme oculo-cutané type 2 (trouble)	morphologie associée (attribut)	Congenital deficiency	false	Inferred relationship	Some
albinisme oculo-cutané type 2 (trouble)	localisation d'une constatation (attribut)	Structure of skin region	false	Inferred relationship	Some	1
albinisme oculo-cutané type 2 (trouble)	localisation d'une constatation (attribut)	Structure of eye proper (body structure)	false	Inferred relationship	Some	1
albinisme oculo-cutané type 2 (trouble)	survenue (attribut)	congénital	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Punctate oculocutaneous albinoidism	est un(e) (attribut)	True	albinisme oculo-cutané type 2 (trouble)	Inferred relationship	Some
Cross syndrome	est un(e) (attribut)	False	albinisme oculo-cutané type 2 (trouble)	Inferred relationship	Some
Rufous albinism	est un(e) (attribut)	True	albinisme oculo-cutané type 2 (trouble)	Inferred relationship	Some
Hermansky-Pudlak syndrome	est un(e) (attribut)	True	albinisme oculo-cutané type 2 (trouble)	Inferred relationship	Some
Chédiak-Higashi syndrome	est un(e) (attribut)	False	albinisme oculo-cutané type 2 (trouble)	Inferred relationship	Some
Brown oculocutaneous albinism	est un(e) (attribut)	True	albinisme oculo-cutané type 2 (trouble)	Inferred relationship	Some

Reference Sets

Client's clinical problems, conditions, diagnoses, symptoms, findings, complaints reference set (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
1225002010	OCA2 - Tyrosinase-positive oculocutaneous albinism	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3758343013	Albinoidism	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3758345018	Oculocutaneous albinism type 2	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
410611000241117	albinisme oculo-cutané type 2 (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
44104018	Tyrosinase-positive oculocutaneous albinism	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
50012531000188111	albinisme oculo-cutané type 2	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
50012541000188116	AOC2	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
50012551000188119	albinisme oculo-cutané tyrosinase-positive	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
756757013	Tyrosinase-positive oculocutaneous albinism (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core