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6479008: Partial albinism (disorder)

SNOMED CT Concept\Clinical 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\Albinism\Partial albinism

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

\Congenital disease\Congenital anomaly\Albinism\Partial albinism
\Congenital disease\Inborn error of metabolism\Albinism\Partial albinism

\Developmental disorder\Developmental hereditary disorder\Albinism\Partial albinism
\Developmental disorder\Congenital anomaly\Albinism\Partial albinism

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

11747017 Partial albinism en Synonym Active Case insensitive SNOMED CT core

804222017 Partial albinism (disorder) en Fully specified name Active Case insensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Partial albinism	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Partial albinism	Associated morphology	Hypopigmentation	false	Inferred relationship	Some	1
Partial albinism	Finding site	Eye region structure	false	Inferred relationship	Some
Partial albinism	Associated morphology	Congenital hypopigmentation	false	Inferred relationship	Some
Partial albinism	Is a	Albinism	true	Inferred relationship	Some
Partial albinism	Finding site	Eye structure	false	Inferred relationship	Some	2
Partial albinism	Associated morphology	Decreased melanin pigmentation	false	Inferred relationship	Some
Partial albinism	Occurrence	Congenital	true	Inferred relationship	Some	1
Partial albinism	Associated morphology	Congenital hypopigmentation	false	Inferred relationship	Some	1
Partial albinism	Occurrence	Congenital	false	Inferred relationship	Some	2
Partial albinism	Associated morphology	Decreased melanin pigmentation	false	Inferred relationship	Some	2
Partial albinism	Associated morphology	Decreased melanin pigmentation	true	Inferred relationship	Some	1
Partial albinism	Finding site	Structure of skin region	false	Inferred relationship	Some	1
Partial albinism	Finding site	Skin structure	false	Inferred relationship	Some	3
Partial albinism	Associated morphology	Congenital hypopigmentation	false	Inferred relationship	Some	1
Partial albinism	Finding site	Eye structure	false	Inferred relationship	Some
Partial albinism	Occurrence	Congenital	false	Inferred relationship	Some
Partial albinism	Associated morphology	Congenital deficiency	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Chédiak-Higashi syndrome	Is a	True	Partial albinism	Inferred relationship	Some

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
11747017	Partial albinism	en	Synonym	Active	Case insensitive	SNOMED CT core
804222017	Partial albinism (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core