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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
Cross syndrome	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	6
Chédiak-Higashi syndrome	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	1
Oculocutaneous albinism	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	2
Phylloid hypomelanosis (disorder)	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	1
Punctate oculocutaneous albinoidism	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	3
Oculocutaneous albinoidism	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	3
Aland eye disease and ocular albinism	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	3
Ocular albinism	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	3
Ocular albinism, type I	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	3
Autosomal recessive ocular albinism (disorder)	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	3
Hypopigmentation-immunodeficiency disease	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
Black locks, oculocutaneous albinism, AND deafness of the sensorineural type	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	2
Congenital hypopigmentation of choroid	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	3
parodontitis gelijktijdig met syndroom van Chédiak-Higashi (aandoening)	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	7
Congenital oculocutaneous hypopigmentation	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	3
Albinism co-occurrent with hematologic disorder (disorder)	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	4
Oculocutaneous albinism type 4 (disorder)	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	4
Oculocutaneous albinism type 4 (disorder)	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	6
Oculocerebral hypopigmentation syndrome of Preus type (disorder)	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	2
Oculocerebral hypopigmentation syndrome of Preus type (disorder)	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	3
Piebaldism (disorder)	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	1
Microcephalus with albinism and digital anomaly syndrome (disorder)	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	8
Microcephalus with albinism and digital anomaly syndrome (disorder)	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	11
Congenital oculocutaneous hypopigmentation	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	4
Vici syndrome (disorder)	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	8
Vici syndrome (disorder)	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	6
Attenuated Chédiak-Higashi syndrome (disorder)	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	4
Deaf blind hypopigmentation syndrome Yemenite type (disorder)	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	4
Ocular albinism with late-onset sensorineural deafness (disorder)	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	7
Oculocutaneous albinism type 5 (disorder)	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	6
Oculocutaneous albinism type 6 (disorder)	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	6
Oculocutaneous albinism type 7 (disorder)	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	6
Albinism with deafness syndrome (disorder)	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	6
Oculocutaneous albinism type 5 (disorder)	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	4
Oculocutaneous albinism type 6 (disorder)	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	4
Oculocutaneous albinism type 7 (disorder)	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	4
Ocular albinism with late-onset sensorineural deafness (disorder)	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	6
Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder)	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	4
Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder)	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	5
Deafness, vitiligo, achalasia syndrome	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	6
Oculocutaneous albinism type 1 (disorder)	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	2
Oculocutaneous albinism type 1 (disorder)	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	1
Oculocutaneous albinism type 5 (disorder)	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	1
Oculocutaneous albinism type 7 (disorder)	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	1
Oculocutaneous albinism type 6 (disorder)	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	1
Microcephalus with albinism and digital anomaly syndrome (disorder)	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	4
Oculocutaneous albinism type 4 (disorder)	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	1
Waardenburg syndrome	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	1
Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder)	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	4
Waardenburg Shah syndrome	Associated morphology	False	congenitale hypopigmentatie	Inferred relationship	Some	3

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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)