6479008: Partial albinism (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Genetic disease\Hereditary disease\...

\Hereditary metabolic disease\Inborn error of metabolism\Albinism\Partial albinism

\Developmental hereditary disorder\Albinism\Partial albinism

\Disorder of pigmentation (disorder)\Albinism\Partial albinism

\Disorder of foetus and/or newborn\Congenital disease\...

\Congenital malformation\Albinism\Partial albinism

\Inborn error of metabolism\Albinism\Partial albinism

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Albinism\Partial albinism

\Developmental disorder (disorder)\Developmental hereditary disorder\Albinism\Partial albinism
\Developmental disorder (disorder)\Congenital malformation\Albinism\Partial albinism

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

11747017 Partial albinism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

804222017 Partial albinism (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

11747017 Partial albinism en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

11747017 Partial albinism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

11748010 Piebaldism en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

804222017 Partial albinism (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

804222017 Partial albinism (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4409931000241118 albinisme partiel fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

4409931000241118 albinisme partiel fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

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

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Chédiak-Higashi syndrome	Is a	True	Partial albinism	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets