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82342003: Yellow mutant 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
136582013 Yellow mutant oculocutaneous albinism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
136584014 Amish albinism en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
136585010 Yellow-type albinism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
823745011 Yellow mutant oculocutaneous albinism (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
1234701010 Yellow oculocutaneous albinism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
2647340015 Xanthous albinism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
136582013 Yellow mutant oculocutaneous albinism en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
136582013 Yellow mutant oculocutaneous albinism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
136583015 Xanthos albinism en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
136584014 Amish albinism en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
136585010 Yellow-type albinism en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
136585010 Yellow-type albinism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
823745011 Yellow mutant oculocutaneous albinism (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
823745011 Yellow mutant oculocutaneous albinism (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
1234701010 Yellow oculocutaneous albinism en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
1234701010 Yellow oculocutaneous albinism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
2647340015 Xanthous albinism en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
2647340015 Xanthous albinism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
544271000274119 OCA1B - Okulokutaner Albinismus, Typ 1B de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
648781000274113 Okulokutaner Albinismus, Typ 1B de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
544271000274119 OCA1B - Okulokutaner Albinismus, Typ 1B de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
648781000274113 Okulokutaner Albinismus, Typ 1B de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3438181001000110 Albinismus, okulokutaner, Typ 1B de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


0 descendants.

Expanded Value Set


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

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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