37548006: immunodeficiëntie met hypopigmentatie (aandoening)

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

\Disorder of pigmentation (disorder)\Hypopigmentation-immunodeficiency disease

\Disorder of immune function (disorder)\Immunodeficiency disorder\...

\Primary immune deficiency disorder\Immunodeficiency with major anomalies\Immunodeficiency associated with multiple organ system abnormalities\Hypopigmentation-immunodeficiency disease

\Congenital immunodeficiency disease\Hypopigmentation-immunodeficiency disease

\Disorder of foetus and/or newborn\Congenital disease (disorder)\...

\Congenital malformation\Hypopigmentation-immunodeficiency disease

\Congenital immunodeficiency disease\Hypopigmentation-immunodeficiency disease

\Disorder of body system\Disorder of immune structure (disorder)\Immunodeficiency with major anomalies\Immunodeficiency associated with multiple organ system abnormalities\Hypopigmentation-immunodeficiency disease

\Metabolic disease\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Disorder of tyrosine metabolism\Hypopigmentation-immunodeficiency disease

\Developmental disorder\Congenital malformation\Hypopigmentation-immunodeficiency disease

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

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hypopigmentation-immunodeficiency disease	Is a	Albinism	false	Inferred relationship	Some
Hypopigmentation-immunodeficiency disease	Is a	Hereditary disorder of immune system	false	Inferred relationship	Some
Hypopigmentation-immunodeficiency disease	Is a	Immunodeficiency associated with multiple organ system abnormalities	true	Inferred relationship	Some
Hypopigmentation-immunodeficiency disease	Is a	Congenital immunodeficiency disease	true	Inferred relationship	Some
Hypopigmentation-immunodeficiency disease	Finding site	Structure of immune system (body structure)	true	Inferred relationship	Some	2
Hypopigmentation-immunodeficiency disease	Associated morphology	Congenital deficiency	false	Inferred relationship	Some
Hypopigmentation-immunodeficiency disease	Associated morphology	congenitale hypopigmentatie	false	Inferred relationship	Some	3
Hypopigmentation-immunodeficiency disease	Occurrence	Congenital	false	Inferred relationship	Some
Hypopigmentation-immunodeficiency disease	Finding site	Structure of skin region	false	Inferred relationship	Some	2
Hypopigmentation-immunodeficiency disease	Finding site	Skin structure	false	Inferred relationship	Some	3
Hypopigmentation-immunodeficiency disease	Finding site	Eye structure	false	Inferred relationship	Some
Hypopigmentation-immunodeficiency disease	Associated morphology	Hypopigmentation	false	Inferred relationship	Some	1
Hypopigmentation-immunodeficiency disease	Finding site	Eye region structure (body structure)	false	Inferred relationship	Some
Hypopigmentation-immunodeficiency disease	Associated morphology	congenitale hypopigmentatie	false	Inferred relationship	Some
Hypopigmentation-immunodeficiency disease	Finding site	Eye structure	false	Inferred relationship	Some	3
Hypopigmentation-immunodeficiency disease	Is a	Site-specific disorder of skin	false	Inferred relationship	Some
Hypopigmentation-immunodeficiency disease	Is a	Hereditary disorder of the integument	false	Inferred relationship	Some
Hypopigmentation-immunodeficiency disease	Is a	Disorder of tyrosine metabolism	true	Inferred relationship	Some
Hypopigmentation-immunodeficiency disease	Is a	Congenital deficiency of pigment of skin	false	Inferred relationship	Some
Hypopigmentation-immunodeficiency disease	Has definitional manifestation	Immune system finding	false	Inferred relationship	Some
Hypopigmentation-immunodeficiency disease	Associated morphology	Decreased melanin pigmentation	false	Inferred relationship	Some
Hypopigmentation-immunodeficiency disease	Occurrence	Congenital	false	Inferred relationship	Some	1
Hypopigmentation-immunodeficiency disease	Occurrence	Congenital	true	Inferred relationship	Some	2
Hypopigmentation-immunodeficiency disease	Associated morphology	congenitale hypopigmentatie	false	Inferred relationship	Some	1
Hypopigmentation-immunodeficiency disease	Associated morphology	Decreased melanin pigmentation	false	Inferred relationship	Some	2
Hypopigmentation-immunodeficiency disease	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	1
Hypopigmentation-immunodeficiency disease	Pathological process (attribute)	Abnormal immune process (qualifier value)	false	Inferred relationship	Some	1
Hypopigmentation-immunodeficiency disease	Associated morphology	Decreased melanin pigmentation	true	Inferred relationship	Some	3
Hypopigmentation-immunodeficiency disease	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Hypopigmentation-immunodeficiency disease	Occurrence	Congenital	true	Inferred relationship	Some	3
Hypopigmentation-immunodeficiency disease	Is a	Congenital malformation	true	Inferred relationship	Some
Hypopigmentation-immunodeficiency disease	Is a	Disorder of pigmentation (disorder)	true	Inferred relationship	Some
Hypopigmentation-immunodeficiency disease	Pathological process (attribute)	Abnormal immune process (qualifier value)	true	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Hypopigmentation-immunodeficiency disease type 1 (disorder)	Is a	True	Hypopigmentation-immunodeficiency disease	Inferred relationship	Some
Hypopigmentation-immunodeficiency disease type 3 (disorder)	Is a	True	Hypopigmentation-immunodeficiency disease	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
62635016	Hypopigmentation-immunodeficiency disease	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
213742016	Griscelli syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
486742016	Chediak-Higashi-like syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
486743014	Griscelli syndrome with immunodeficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
486744015	Partial albinism with immunodeficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
769427015	Hypopigmentation-immunodeficiency disease (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
347131000146118	syndroom van Griscelli	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
347141000146114	immuundeficiëntie met hypopigmentatie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7068931000146113	immunodeficiëntie met hypopigmentatie (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7069681000146114	immunodeficiëntie met hypopigmentatie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)