6483008: Tyrosinase-negative 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\Tyrosinase-negative oculocutaneous albinism
\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\Tyrosinase-negative oculocutaneous albinism
\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\Tyrosinase-negative oculocutaneous albinism
\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\Tyrosinase-negative oculocutaneous albinism
\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\Tyrosinase-negative oculocutaneous albinism
\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\Tyrosinase-negative oculocutaneous albinism
\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\Tyrosinase-negative oculocutaneous albinism

\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\Tyrosinase-negative oculocutaneous albinism
\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\Tyrosinase-negative oculocutaneous albinism
\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\Tyrosinase-negative oculocutaneous albinism
\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\Tyrosinase-negative oculocutaneous albinism
\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\Tyrosinase-negative oculocutaneous albinism
\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\Tyrosinase-negative oculocutaneous albinism
\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\Tyrosinase-negative oculocutaneous albinism
\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\Tyrosinase-negative oculocutaneous albinism
\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\Tyrosinase-negative oculocutaneous albinism
\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\Tyrosinase-negative oculocutaneous albinism
\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\Tyrosinase-negative oculocutaneous albinism

\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\Tyrosinase-negative oculocutaneous albinism
\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\Tyrosinase-negative oculocutaneous albinism
\Finding of head region\constatation à propos d'un globe oculaire\Lesion of eye structure\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism

\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\Tyrosinase-negative oculocutaneous albinism
\affection de la tête\Congenital anomaly of head\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism

\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\Tyrosinase-negative oculocutaneous albinism
\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\Tyrosinase-negative oculocutaneous albinism
\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\Tyrosinase-negative oculocutaneous albinism
\constatation à propos des yeux ou de la vue\affection du système visuel\Hereditary disorder of the visual system\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\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\Tyrosinase-negative oculocutaneous albinism

\Integumentary system finding\troubles tégumentaires\Hereditary disorder of the integument\Genetic disorder of skin pigmentation (disorder)\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\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\Tyrosinase-negative oculocutaneous albinism
\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\Tyrosinase-negative oculocutaneous albinism
\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\Tyrosinase-negative oculocutaneous albinism
\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\Tyrosinase-negative oculocutaneous albinism
\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\Tyrosinase-negative oculocutaneous albinism
\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\Tyrosinase-negative oculocutaneous albinism
\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\Tyrosinase-negative oculocutaneous albinism
\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\Tyrosinase-negative oculocutaneous albinism
\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\Tyrosinase-negative oculocutaneous albinism

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the visual system\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the integument\Genetic disorder of skin pigmentation (disorder)\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Albinism\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\Disease\Genetic disease\maladie héréditaire\Inborn error of metabolism\Albinism\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\Disease\trouble de la pigmentation\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\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\Tyrosinase-negative oculocutaneous albinism
\Disease\trouble de la pigmentation\Disorder of skin pigmentation (disorder)\hypopigmentation cutanée\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\Disease\trouble de la pigmentation\Albinism\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the visual system\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the integument\Genetic disorder of skin pigmentation (disorder)\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\Disease\affection d'un système corporel\troubles tégumentaires\Hereditary disorder of the integument\Genetic disorder of skin pigmentation (disorder)\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\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\Tyrosinase-negative oculocutaneous albinism
\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\Tyrosinase-negative oculocutaneous albinism
\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\Tyrosinase-negative oculocutaneous albinism
\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\Tyrosinase-negative oculocutaneous albinism
\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\Tyrosinase-negative oculocutaneous albinism
\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\Tyrosinase-negative oculocutaneous albinism
\Disease\affection d'un système corporel\affection du système visuel\Hereditary disorder of the visual system\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\Disease\affection d'un système corporel\affection du système visuel\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\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\Tyrosinase-negative oculocutaneous albinism
\Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\Disease\trouble métabolique\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Disorder of tyrosine metabolism (disorder)\Tyrosinase-negative oculocutaneous albinism
\Disease\trouble métabolique\Inborn error of metabolism\Albinism\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\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\Tyrosinase-negative oculocutaneous albinism
\Disease\Congenital disease\Congenital malformation\Albinism\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\Disease\Congenital disease\Inborn error of metabolism\Albinism\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\Disease\Disorder of soft tissue\lésion de tissu mou\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\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\Tyrosinase-negative oculocutaneous albinism
\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\Tyrosinase-negative oculocutaneous albinism
\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\Tyrosinase-negative oculocutaneous albinism
\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\Tyrosinase-negative oculocutaneous albinism
\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\Tyrosinase-negative oculocutaneous albinism
\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\Tyrosinase-negative oculocutaneous albinism
\Disease\trouble du développement\Developmental hereditary disorder\Albinism\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\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\Tyrosinase-negative oculocutaneous albinism
\Disease\trouble du développement\Congenital malformation\Albinism\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

11757016 Tyrosinase-negative oculocutaneous albinism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

1232615016 OCA1 - Tyrosinase-negative oculocutaneous albinism en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

1232616015 Tyrosinase-related oculocutaneous albinism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

804267012 Tyrosinase-negative oculocutaneous albinism (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

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

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Yellow mutant oculocutaneous albinism	est un(e) (attribut)	True	Tyrosinase-negative oculocutaneous albinism	Inferred relationship	Some
Minimal pigment oculocutaneous albinism	est un(e) (attribut)	True	Tyrosinase-negative oculocutaneous albinism	Inferred relationship	Some
Temperature-sensitive oculocutaneous albinism	est un(e) (attribut)	True	Tyrosinase-negative oculocutaneous albinism	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
11757016	Tyrosinase-negative oculocutaneous albinism	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1232615016	OCA1 - Tyrosinase-negative oculocutaneous albinism	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1232616015	Tyrosinase-related oculocutaneous albinism	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
804267012	Tyrosinase-negative oculocutaneous albinism (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core