FHIR © HL7.org | Server Home | FHIR Server FHIR Server 3.7.24 | FHIR Version n/a User: [n/a]

15890002: albinisme (aandoening)

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

\Genetic disease\Hereditary disease\...

\Hereditary metabolic disease\Inborn error of metabolism\Albinism

\Developmental hereditary disorder\Albinism

\Disorder of pigmentation (disorder)\Albinism

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

\Congenital malformation\Albinism

\Inborn error of metabolism\Albinism

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

\Developmental disorder\Developmental hereditary disorder\Albinism
\Developmental disorder\Congenital malformation\Albinism

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Albinism	Is a	Genodermatosis	false	Inferred relationship	Some
Albinism	Is a	Disease of eye	false	Inferred relationship	Some
Albinism	Is a	Hereditary disorder of the integument	false	Inferred relationship	Some
Albinism	Is a	Disorder of tyrosine metabolism	false	Inferred relationship	Some
Albinism	Is a	Congenital anomaly of head	false	Inferred relationship	Some
Albinism	Is a	Congenital deficiency of pigment of skin	false	Inferred relationship	Some
Albinism	Is a	Disorder of skin AND/OR subcutaneous tissue of head (disorder)	false	Inferred relationship	Some
Albinism	Finding site	Eye structure	false	Inferred relationship	Some
Albinism	Associated morphology	Congenital deficiency	false	Inferred relationship	Some
Albinism	Associated morphology	congenitale hypopigmentatie	false	Inferred relationship	Some	1
Albinism	Finding site	Structure of skin region	false	Inferred relationship	Some	2
Albinism	Occurrence	Congenital	false	Inferred relationship	Some
Albinism	Finding site	Skin structure	false	Inferred relationship	Some	3
Albinism	Is a	Disorder of eye region (disorder)	false	Inferred relationship	Some
Albinism	Is a	Hereditary disorder of the visual system (disorder)	false	Inferred relationship	Some
Albinism	Finding site	Eye region structure (body structure)	false	Inferred relationship	Some
Albinism	Is a	Site-specific disorder of skin	false	Inferred relationship	Some
Albinism	Associated morphology	congenitale hypopigmentatie	false	Inferred relationship	Some
Albinism	Is a	Congenital anomaly of eye	false	Inferred relationship	Some
Albinism	Finding site	Eye structure	false	Inferred relationship	Some	1
Albinism	Is a	Disorder of pigmentation (disorder)	true	Inferred relationship	Some
Albinism	Is a	Inborn error of metabolism	true	Inferred relationship	Some
Albinism	Associated morphology	Decreased melanin pigmentation	false	Inferred relationship	Some
Albinism	Is a	Congenital anomaly	false	Inferred relationship	Some
Albinism	Is a	Congenital malformation	true	Inferred relationship	Some
Albinism	Occurrence	Congenital	true	Inferred relationship	Some	1
Albinism	Associated morphology	congenitale hypopigmentatie	false	Inferred relationship	Some	1
Albinism	Occurrence	Congenital	false	Inferred relationship	Some	2
Albinism	Associated morphology	Decreased melanin pigmentation	false	Inferred relationship	Some	2
Albinism	Associated morphology	Decreased melanin pigmentation	true	Inferred relationship	Some	1
Albinism	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Albinism	Associated morphology	Hypopigmentation	false	Inferred relationship	Some	1
Albinism	Is a	Developmental hereditary disorder	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Waardenburg syndrome type 3 (disorder)	Is a	False	Albinism	Inferred relationship	Some
Ocular albinism	Is a	True	Albinism	Inferred relationship	Some
Hypopigmentation-immunodeficiency disease	Is a	False	Albinism	Inferred relationship	Some
Albinoidism	Is a	False	Albinism	Inferred relationship	Some
Oculocutaneous albinism	Is a	True	Albinism	Inferred relationship	Some
Partial albinism	Is a	True	Albinism	Inferred relationship	Some
Woolf's syndrome	Is a	True	Albinism	Inferred relationship	Some
Albinism-deafness syndrome of Tietz (disorder)	Is a	True	Albinism	Inferred relationship	Some
Ziprkowski-Margolis syndrome (disorder)	Is a	True	Albinism	Inferred relationship	Some
Phylloid hypomelanosis (disorder)	Is a	True	Albinism	Inferred relationship	Some
Albinism co-occurrent with hematologic disorder (disorder)	Is a	True	Albinism	Inferred relationship	Some
Albinism with deafness syndrome (disorder)	Is a	False	Albinism	Inferred relationship	Some
Male albinism with deafness syndrome	Is a	True	Albinism	Inferred relationship	Some

Reference Sets

Dutch pathology simple reference set (foundation metadata concept)

GB English

US English

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
26917012	Albinism	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
26920016	Albinismus	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
742804013	Albinism (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
340601000146117	albinisme	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
340611000146115	albinisme (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8728291000146118	Erfelijke aandoening waarbij er niet genoeg melanine wordt aangemaakt door een enzymdefect; melanine zorgt voor de kleur van de ogen, haar en huid; iemand met albinisme heeft licht tot wit haar en soms rode ogen en een zeer lichte huid; albinisme kan leiden tot huid- en oogaandoeningen.	nl	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)