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26336006: Tyrosinase-positive oculocutaneous albinism (disorder)


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

Descriptions:

Id Description Lang Type Status Case? Module
44104018 Tyrosinase-positive oculocutaneous albinism en Synonym Active Entire term case insensitive SNOMED CT core module
756757013 Tyrosinase-positive oculocutaneous albinism (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
1225002010 OCA2 - Tyrosinase-positive oculocutaneous albinism en Synonym Active Entire term case sensitive SNOMED CT core module
3758343013 Albinoidism en Synonym Active Entire term case insensitive SNOMED CT core module
3758345018 Oculocutaneous albinism type 2 en Synonym Active Entire term case insensitive SNOMED CT core 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
Tyrosinase-positive oculocutaneous albinism Associated morphology Congenital hypopigmentation false Inferred relationship Existential restriction modifier 1
Tyrosinase-positive oculocutaneous albinism Finding site Skin structure false Inferred relationship Existential restriction modifier 3
Tyrosinase-positive oculocutaneous albinism Occurrence Congenital false Inferred relationship Existential restriction modifier
Tyrosinase-positive oculocutaneous albinism Associated morphology Congenital deficiency false Inferred relationship Existential restriction modifier
Tyrosinase-positive oculocutaneous albinism Finding site Structure of skin region false Inferred relationship Existential restriction modifier 1
Tyrosinase-positive oculocutaneous albinism Finding site Structure of eye proper false Inferred relationship Existential restriction modifier 1
Tyrosinase-positive oculocutaneous albinism Associated morphology Congenital hypopigmentation false Inferred relationship Existential restriction modifier 1
Tyrosinase-positive oculocutaneous albinism Due to Disorder of tyrosine metabolism false Inferred relationship Existential restriction modifier
Tyrosinase-positive oculocutaneous albinism Associated morphology Decreased melanin pigmentation false Inferred relationship Existential restriction modifier 1
Tyrosinase-positive oculocutaneous albinism Finding site Skin structure true Inferred relationship Existential restriction modifier 1
Tyrosinase-positive oculocutaneous albinism Finding site Structure of eye proper false Inferred relationship Existential restriction modifier 1
Tyrosinase-positive oculocutaneous albinism Associated morphology Congenital hypopigmentation false Inferred relationship Existential restriction modifier 1
Tyrosinase-positive oculocutaneous albinism Associated morphology Decreased melanin pigmentation true Inferred relationship Existential restriction modifier 1
Tyrosinase-positive oculocutaneous albinism Finding site Skin structure false Inferred relationship Existential restriction modifier 1
Tyrosinase-positive oculocutaneous albinism Occurrence Congenital true Inferred relationship Existential restriction modifier 2
Tyrosinase-positive oculocutaneous albinism Associated morphology Congenital hypopigmentation false Inferred relationship Existential restriction modifier 2
Tyrosinase-positive oculocutaneous albinism Finding site Skin structure false Inferred relationship Existential restriction modifier 2
Tyrosinase-positive oculocutaneous albinism Occurrence Congenital false Inferred relationship Existential restriction modifier 3
Tyrosinase-positive oculocutaneous albinism Associated morphology Decreased melanin pigmentation false Inferred relationship Existential restriction modifier 3
Tyrosinase-positive oculocutaneous albinism Associated morphology Decreased melanin pigmentation true Inferred relationship Existential restriction modifier 2
Tyrosinase-positive oculocutaneous albinism Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Tyrosinase-positive oculocutaneous albinism Finding site Structure of eye proper true Inferred relationship Existential restriction modifier 2
Tyrosinase-positive oculocutaneous albinism Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 1
Tyrosinase-positive oculocutaneous albinism Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 2
Tyrosinase-positive oculocutaneous albinism Associated morphology Hypopigmentation false Inferred relationship Existential restriction modifier 1
Tyrosinase-positive oculocutaneous albinism Associated morphology Hypopigmentation false Inferred relationship Existential restriction modifier 2

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

This concept is not in any reference sets

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