83386001: congenitale hypopigmentatie (afwijkende morfologie)

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
congenitale hypopigmentatie	Is a	congenitale pigmentatie	false	Inferred relationship	Some
congenitale hypopigmentatie	Is a	Hypopigmentation	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Minimal pigment oculocutaneous albinism	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	1
Temperature-sensitive oculocutaneous albinism	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	1
Tyrosinase-positive oculocutaneous albinism	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	1
syndroom van oculocutaan albinisme, lentigines en doofheid	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	3
Albinoidism	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	1
Waardenburg syndrome type 3 (disorder)	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	1
Punctate oculocutaneous albinoidism	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	1
Rufous albinism	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	1
Tyrosinase-negative oculocutaneous albinism	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	1
Autosomal recessive ocular albinism (disorder)	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	3
Autosomal dominant oculocutaneous albinism	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	2
Yellow mutant oculocutaneous albinism	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	2
Hermansky-Pudlak syndrome	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	2
Aland eye disease and ocular albinism	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	1
Albinism	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	1
Congenital deficiency of pigment of skin	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	1
Ocular albinism	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	1
Hypopigmentation-immunodeficiency disease	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	3
Congenital oculocutaneous hypopigmentation	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	1
Oculocutaneous albinism	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	1
Partial albinism	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	1
Woolf's syndrome	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	2
Ocular albinism, type I	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	1
Congenital hypopigmentation of choroid	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	1
Black locks, oculocutaneous albinism, AND deafness of the sensorineural type	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	1
Chédiak-Higashi syndrome	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some
Brown oculocutaneous albinism	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	1
Oculocutaneous albinoidism	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	1
Cross syndrome	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	3
Albinism-deafness syndrome of Tietz (disorder)	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some
Ziprkowski-Margolis syndrome (disorder)	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some
Phylloid hypomelanosis (disorder)	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some
Aland eye disease and ocular albinism	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	1
Temperature-sensitive oculocutaneous albinism	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	1
Partial albinism	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some
Minimal pigment oculocutaneous albinism	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	1
Ocular albinism, type I	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	1
Tyrosinase-positive oculocutaneous albinism	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	1
Ziprkowski-Margolis syndrome (disorder)	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	2
Cross syndrome	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	3
Albinism	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some
Rufous albinism	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	1
Oculocutaneous albinoidism	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	2
Ocular albinism	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	1
Oculocutaneous albinism	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	1
Punctate oculocutaneous albinoidism	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	1
Albinism-deafness syndrome of Tietz (disorder)	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	2
Waardenburg syndrome type 3 (disorder)	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	1
Chédiak-Higashi syndrome	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	2
Hermansky-Pudlak syndrome	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	1
Autosomal dominant oculocutaneous albinism	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	1
Black locks, oculocutaneous albinism, AND deafness of the sensorineural type	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	1
Autosomal recessive ocular albinism (disorder)	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	1
Brown oculocutaneous albinism	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	1
Hypopigmentation-immunodeficiency disease	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some
Tyrosinase-negative oculocutaneous albinism	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	1
Woolf's syndrome	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some
Albinoidism	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	1
Yellow mutant oculocutaneous albinism	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	1
Phylloid hypomelanosis (disorder)	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	1
syndroom van oculocutaan albinisme, lentigines en doofheid	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	1
Congenital oculocutaneous hypopigmentation	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	1
syndroom van oculocutaan albinisme, lentigines en doofheid	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	1
Tyrosinase-positive oculocutaneous albinism	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	1
Hermansky-Pudlak syndrome	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	1
Black locks, oculocutaneous albinism, AND deafness of the sensorineural type	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	1
Ocular albinism, type I	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	1
Albinoidism	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	1
Oculocutaneous albinism	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	1
Brown oculocutaneous albinism	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	1
Autosomal dominant oculocutaneous albinism	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	1
Minimal pigment oculocutaneous albinism	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	1
Rufous albinism	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	1
Ocular albinism	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	1
Yellow mutant oculocutaneous albinism	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	1
Oculocutaneous albinoidism	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	1
Congenital hypopigmentation of choroid	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	1
Tyrosinase-negative oculocutaneous albinism	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	1
Punctate oculocutaneous albinoidism	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	1
Autosomal recessive ocular albinism (disorder)	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	1
Aland eye disease and ocular albinism	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	1
Congenital deficiency of pigment of skin	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	1
Temperature-sensitive oculocutaneous albinism	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	1
Albinoidism	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	2
Brown oculocutaneous albinism	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	2
Rufous albinism	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	2
Partial albinism	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	1
Albinism-deafness syndrome of Tietz (disorder)	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	1
Minimal pigment oculocutaneous albinism	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	2
Yellow mutant oculocutaneous albinism	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	2
Hermansky-Pudlak syndrome	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	2
Albinism	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	1
Ziprkowski-Margolis syndrome (disorder)	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	1
Tyrosinase-positive oculocutaneous albinism	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	2
Woolf's syndrome	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	1
Albinotic fundus	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	3
Autosomal dominant oculocutaneous albinism	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	2
Congenital deficiency of pigment of skin	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	2
Tyrosinase-negative oculocutaneous albinism	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	2
Temperature-sensitive oculocutaneous albinism	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	2
Cross syndrome	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	6

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Reference Sets

Concept inactivation indicator reference set

SAME AS association reference set (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
138307014	Congenital hypopigmentation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
825008010	Congenital hypopigmentation (morphologic abnormality)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1190781000146115	congenitale hypopigmentatie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
1190791000146118	congenitale hypopigmentatie (afwijkende morfologie)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)