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26336006: Tyrosinase-positive oculocutaneous albinism (disorder)


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

Descriptions:

Id Description Lang Type Status Case? Module
44104018 Tyrosinase-positive oculocutaneous albinism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
756757013 Tyrosinase-positive oculocutaneous albinism (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
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
44104018 Tyrosinase-positive oculocutaneous albinism en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
44104018 Tyrosinase-positive oculocutaneous albinism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
756757013 Tyrosinase-positive oculocutaneous albinism (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
756757013 Tyrosinase-positive oculocutaneous albinism (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
1225002010 OCA2 - Tyrosinase-positive oculocutaneous albinism en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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
640331000274110 OCA2 - Okulokutaner Albinismus, Typ 2 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
640341000274117 Okulokutaner Albinismus, Typ 2 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
50012531000188111 albinisme oculo-cutané type 2 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
50012541000188116 AOC2 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
50012551000188119 albinisme oculo-cutané tyrosinase-positive fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
50012531000188111 albinisme oculo-cutané type 2 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
50012541000188116 AOC2 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
50012551000188119 albinisme oculo-cutané tyrosinase-positive fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
640331000274110 OCA2 - Okulokutaner Albinismus, Typ 2 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
640341000274117 Okulokutaner Albinismus, Typ 2 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3411641001000111 Albinismus, okulokutaner, Typ 2 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


4 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Tyrosinase-positive oculocutaneous albinism Is a Oculocutaneous albinism true Inferred relationship Existential restriction modifier (core metadata concept)
Tyrosinase-positive oculocutaneous albinism Associated morphology Congenital hypopigmentation false Inferred relationship Existential restriction modifier (core metadata concept) 1
Tyrosinase-positive oculocutaneous albinism Finding site Skin structure false Inferred relationship Existential restriction modifier (core metadata concept) 3
Tyrosinase-positive oculocutaneous albinism Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
Tyrosinase-positive oculocutaneous albinism Associated morphology Congenital deficiency false Inferred relationship Existential restriction modifier (core metadata concept)
Tyrosinase-positive oculocutaneous albinism Finding site Structure of skin region (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 1
Tyrosinase-positive oculocutaneous albinism Finding site Eye structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Tyrosinase-positive oculocutaneous albinism Associated morphology Congenital hypopigmentation false Inferred relationship Existential restriction modifier (core metadata concept) 1
Tyrosinase-positive oculocutaneous albinism Due to Disorder of tyrosine metabolism (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Tyrosinase-positive oculocutaneous albinism Associated morphology Decreased melanin pigmentation false Inferred relationship Existential restriction modifier (core metadata concept) 1
Tyrosinase-positive oculocutaneous albinism Finding site Skin structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Tyrosinase-positive oculocutaneous albinism Finding site Eye structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Tyrosinase-positive oculocutaneous albinism Associated morphology Congenital hypopigmentation false Inferred relationship Existential restriction modifier (core metadata concept) 1
Tyrosinase-positive oculocutaneous albinism Associated morphology Decreased melanin pigmentation true Inferred relationship Existential restriction modifier (core metadata concept) 1
Tyrosinase-positive oculocutaneous albinism Finding site Skin structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Tyrosinase-positive oculocutaneous albinism Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Tyrosinase-positive oculocutaneous albinism Associated morphology Congenital hypopigmentation false Inferred relationship Existential restriction modifier (core metadata concept) 2
Tyrosinase-positive oculocutaneous albinism Finding site Skin structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Tyrosinase-positive oculocutaneous albinism Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 3
Tyrosinase-positive oculocutaneous albinism Associated morphology Decreased melanin pigmentation false Inferred relationship Existential restriction modifier (core metadata concept) 3
Tyrosinase-positive oculocutaneous albinism Associated morphology Decreased melanin pigmentation true Inferred relationship Existential restriction modifier (core metadata concept) 2
Tyrosinase-positive oculocutaneous albinism Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Tyrosinase-positive oculocutaneous albinism Finding site Eye structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Tyrosinase-positive oculocutaneous albinism Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Tyrosinase-positive oculocutaneous albinism Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Tyrosinase-positive oculocutaneous albinism Associated morphology Hypopigmentation false Inferred relationship Existential restriction modifier (core metadata concept) 1
Tyrosinase-positive oculocutaneous albinism Associated morphology Hypopigmentation false Inferred relationship Existential restriction modifier (core metadata concept) 2

Inbound Relationships Type Active Source Characteristic Refinability Group
Chédiak-Higashi syndrome Is a False Tyrosinase-positive oculocutaneous albinism Inferred relationship Existential restriction modifier (core metadata concept)
Brown oculocutaneous albinism Is a True Tyrosinase-positive oculocutaneous albinism Inferred relationship Existential restriction modifier (core metadata concept)
Cross syndrome Is a False Tyrosinase-positive oculocutaneous albinism Inferred relationship Existential restriction modifier (core metadata concept)
Rufous albinism Is a True Tyrosinase-positive oculocutaneous albinism Inferred relationship Existential restriction modifier (core metadata concept)
Hermansky-Pudlak syndrome Is a True Tyrosinase-positive oculocutaneous albinism Inferred relationship Existential restriction modifier (core metadata concept)
Punctate oculocutaneous albinoidism Is a True Tyrosinase-positive oculocutaneous albinism Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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