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79417003: Autosomal dominant oculocutaneous albinism (disorder)

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Concept inactivation indicator attribute value reference set (foundation metadata concept)

REPLACED BY association reference set (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
131767016	Autosomal dominant oculocutaneous albinism	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
820465019	Autosomal dominant oculocutaneous albinism (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
131767016	Autosomal dominant oculocutaneous albinism	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
131767016	Autosomal dominant oculocutaneous albinism	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
820465019	Autosomal dominant oculocutaneous albinism (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
820465019	Autosomal dominant oculocutaneous albinism (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core