63450009: Rufous albinism (disorder)

SNOMED CT Concept\Clinical finding\...

\Skin AND/OR mucosa finding\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Oculocutaneous albinism\Tyrosinase-positive oculocutaneous albinism\Rufous albinism
\Skin AND/OR mucosa finding\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-positive oculocutaneous albinism\Rufous albinism
\Skin AND/OR mucosa finding\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Disorder of skin pigmentation\Hypopigmentation of skin\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-positive oculocutaneous albinism\Rufous albinism
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-positive oculocutaneous albinism\Rufous albinism
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Oculocutaneous albinism\Tyrosinase-positive oculocutaneous albinism\Rufous albinism
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-positive oculocutaneous albinism\Rufous albinism
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Hypopigmentation of skin\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-positive oculocutaneous albinism\Rufous albinism

\Finding of head and neck region\Head finding\...

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

105470011 Rufous albinism en Synonym Active Entire term case insensitive SNOMED CT core module

105471010 Red-skin albinism en Synonym Active Entire term case insensitive SNOMED CT core module

499595015 Rufous oculocutaneous albinism en Synonym Active Entire term case insensitive SNOMED CT core module

802734013 Rufous albinism (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

2536411012 Xanthism en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Rufous albinism	Is a	Tyrosinase-positive oculocutaneous albinism	true	Inferred relationship	Existential restriction modifier
Rufous albinism	Associated morphology	Congenital hypopigmentation	false	Inferred relationship	Existential restriction modifier	1
Rufous albinism	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	3
Rufous albinism	Finding site	Structure of skin region	false	Inferred relationship	Existential restriction modifier	1
Rufous albinism	Associated morphology	Congenital deficiency	false	Inferred relationship	Existential restriction modifier
Rufous albinism	Finding site	Structure of eye proper	false	Inferred relationship	Existential restriction modifier	1
Rufous albinism	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier
Rufous albinism	Associated morphology	Red color	false	Inferred relationship	Existential restriction modifier
Rufous albinism	Associated morphology	Congenital hypopigmentation	false	Inferred relationship	Existential restriction modifier	1
Rufous albinism	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	1
Rufous albinism	Due to	Disorder of tyrosine metabolism	false	Inferred relationship	Existential restriction modifier
Rufous albinism	Associated morphology	Decreased melanin pigmentation	false	Inferred relationship	Existential restriction modifier	1
Rufous albinism	Finding site	Structure of eye proper	false	Inferred relationship	Existential restriction modifier	1
Rufous albinism	Finding site	Skin structure	true	Inferred relationship	Existential restriction modifier	1
Rufous albinism	Associated morphology	Congenital hypopigmentation	false	Inferred relationship	Existential restriction modifier	1
Rufous albinism	Associated morphology	Decreased melanin pigmentation	true	Inferred relationship	Existential restriction modifier	1
Rufous albinism	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Rufous albinism	Associated morphology	Congenital hypopigmentation	false	Inferred relationship	Existential restriction modifier	2
Rufous albinism	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	2
Rufous albinism	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	3
Rufous albinism	Associated morphology	Decreased melanin pigmentation	false	Inferred relationship	Existential restriction modifier	3
Rufous albinism	Associated morphology	Decreased melanin pigmentation	true	Inferred relationship	Existential restriction modifier	2
Rufous albinism	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Rufous albinism	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Rufous albinism	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Rufous albinism	Finding site	Structure of eye proper	true	Inferred relationship	Existential restriction modifier	2
Rufous albinism	Associated morphology	Hypopigmentation	false	Inferred relationship	Existential restriction modifier	2
Rufous albinism	Associated morphology	Hypopigmentation	false	Inferred relationship	Existential restriction modifier	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
105470011	Rufous albinism	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
105471010	Red-skin albinism	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
499595015	Rufous oculocutaneous albinism	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
802734013	Rufous albinism (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
2536411012	Xanthism	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module