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52171000: syndroom van oculocutaan albinisme, lentigines en doofheid (aandoening)

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2020. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
syndroom van oculocutaan albinisme, lentigines en doofheid	Is a	Skin hypopigmented	false	Inferred relationship	Some
syndroom van oculocutaan albinisme, lentigines en doofheid	Is a	Lentigo	false	Inferred relationship	Some
syndroom van oculocutaan albinisme, lentigines en doofheid	Is a	Ocular albinism	false	Inferred relationship	Some
syndroom van oculocutaan albinisme, lentigines en doofheid	Associated morphology	Hyperpigmentation	false	Inferred relationship	Some	1
syndroom van oculocutaan albinisme, lentigines en doofheid	Associated morphology	congenitale hypopigmentatie	false	Inferred relationship	Some	3
syndroom van oculocutaan albinisme, lentigines en doofheid	Finding site	Skin structure	false	Inferred relationship	Some	2
syndroom van oculocutaan albinisme, lentigines en doofheid	Finding site	Skin structure	false	Inferred relationship	Some	3
syndroom van oculocutaan albinisme, lentigines en doofheid	Finding site	Structure of nervous system (body structure)	false	Inferred relationship	Some
syndroom van oculocutaan albinisme, lentigines en doofheid	Pathological process	Benign neoplastic process	false	Inferred relationship	Some
syndroom van oculocutaan albinisme, lentigines en doofheid	Associated morphology	Congenital deficiency	false	Inferred relationship	Some
syndroom van oculocutaan albinisme, lentigines en doofheid	Associated morphology	naevus naevocellularis - geen ICD-O-subtype (afwijkende morfologie)	false	Inferred relationship	Some	3
syndroom van oculocutaan albinisme, lentigines en doofheid	Finding site	Eye structure	false	Inferred relationship	Some	1
syndroom van oculocutaan albinisme, lentigines en doofheid	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some	1
syndroom van oculocutaan albinisme, lentigines en doofheid	Occurrence	Congenital	false	Inferred relationship	Some
syndroom van oculocutaan albinisme, lentigines en doofheid	Finding site	Orbital region structure	false	Inferred relationship	Some	1
syndroom van oculocutaan albinisme, lentigines en doofheid	Finding site	Structure of skin region	false	Inferred relationship	Some	2
syndroom van oculocutaan albinisme, lentigines en doofheid	Is a	Neoplasm of eye region (disorder)	false	Inferred relationship	Some
syndroom van oculocutaan albinisme, lentigines en doofheid	Is a	Benign tumour of head and neck	false	Inferred relationship	Some
syndroom van oculocutaan albinisme, lentigines en doofheid	Finding site	Skin structure	false	Inferred relationship	Some	1
syndroom van oculocutaan albinisme, lentigines en doofheid	Finding site	Skin structure	false	Inferred relationship	Some	3
syndroom van oculocutaan albinisme, lentigines en doofheid	Is a	Benign neoplasm of skin	false	Inferred relationship	Some
syndroom van oculocutaan albinisme, lentigines en doofheid	Finding site	Structure of skin region	false	Inferred relationship	Some	3
syndroom van oculocutaan albinisme, lentigines en doofheid	Finding site	Structure of skin region	false	Inferred relationship	Some	5
syndroom van oculocutaan albinisme, lentigines en doofheid	Finding site	Structure of skin region	false	Inferred relationship	Some	2
syndroom van oculocutaan albinisme, lentigines en doofheid	Is a	Melanocytic tumor of skin	false	Inferred relationship	Some
syndroom van oculocutaan albinisme, lentigines en doofheid	Is a	Melanocytic nevus of skin (disorder)	false	Inferred relationship	Some
syndroom van oculocutaan albinisme, lentigines en doofheid	Is a	Acquired melanocytic nevus (disorder)	false	Inferred relationship	Some
syndroom van oculocutaan albinisme, lentigines en doofheid	Is a	lentigo (aandoening)	false	Inferred relationship	Some
syndroom van oculocutaan albinisme, lentigines en doofheid	Finding site	Skin structure	false	Inferred relationship	Some	2
syndroom van oculocutaan albinisme, lentigines en doofheid	Finding site	Structure of skin region	false	Inferred relationship	Some	3
syndroom van oculocutaan albinisme, lentigines en doofheid	Associated morphology	congenitale hypopigmentatie	false	Inferred relationship	Some	1
syndroom van oculocutaan albinisme, lentigines en doofheid	Associated morphology	Pigment deposition	false	Inferred relationship	Some	2
syndroom van oculocutaan albinisme, lentigines en doofheid	Is a	Hereditary disorder of the integument	false	Inferred relationship	Some
syndroom van oculocutaan albinisme, lentigines en doofheid	Associated morphology	Decreased melanin pigmentation	false	Inferred relationship	Some	1
syndroom van oculocutaan albinisme, lentigines en doofheid	Associated morphology	hyperpigmentatie door melanine	false	Inferred relationship	Some	2
syndroom van oculocutaan albinisme, lentigines en doofheid	Finding site	Eye structure	false	Inferred relationship	Some	1
syndroom van oculocutaan albinisme, lentigines en doofheid	Associated morphology	congenitale hypopigmentatie	false	Inferred relationship	Some	1
syndroom van oculocutaan albinisme, lentigines en doofheid	Associated morphology	hyperpigmentatie door melanine	false	Inferred relationship	Some	2
syndroom van oculocutaan albinisme, lentigines en doofheid	Finding site	Skin structure	false	Inferred relationship	Some	2
syndroom van oculocutaan albinisme, lentigines en doofheid	Associated morphology	Decreased melanin pigmentation	false	Inferred relationship	Some	1
syndroom van oculocutaan albinisme, lentigines en doofheid	Occurrence	Congenital	false	Inferred relationship	Some	3
syndroom van oculocutaan albinisme, lentigines en doofheid	Occurrence	Congenital	false	Inferred relationship	Some	4
syndroom van oculocutaan albinisme, lentigines en doofheid	Associated morphology	congenitale hypopigmentatie	false	Inferred relationship	Some	3
syndroom van oculocutaan albinisme, lentigines en doofheid	Associated morphology	Decreased melanin pigmentation	false	Inferred relationship	Some	4
syndroom van oculocutaan albinisme, lentigines en doofheid	Is a	Genetic disorder of skin pigmentation (disorder)	false	Inferred relationship	Some
syndroom van oculocutaan albinisme, lentigines en doofheid	Associated morphology	Lentigo (morphologic abnormality)	false	Inferred relationship	Some	2
syndroom van oculocutaan albinisme, lentigines en doofheid	Is a	Lentiginosis (disorder)	false	Inferred relationship	Some
syndroom van oculocutaan albinisme, lentigines en doofheid	Finding site	Structure of skin and/or mucous membrane (body structure)	false	Inferred relationship	Some	2
syndroom van oculocutaan albinisme, lentigines en doofheid	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	1
syndroom van oculocutaan albinisme, lentigines en doofheid	Occurrence	Congenital	false	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Concept inactivation indicator reference set

REPLACED BY association reference set (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
86830019	Ocular albinism-lentigines-deafness syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
790151017	Ocular albinism-lentigines-deafness syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
6955461000146116	syndroom van oculocutaan albinisme, lentigines en doofheid	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6955471000146110	syndroom van oculocutaan albinisme, lentigines en doofheid (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)