83386001: Congenital hypopigmentation (morphologic abnormality)

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
Congenital hypopigmentation	Is a	Congenital pigmentation	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital hypopigmentation	Is a	Hypopigmentation	false	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Cross syndrome	Associated morphology	False	Congenital hypopigmentation	Inferred relationship	Existential restriction modifier (core metadata concept)	6
Chédiak-Higashi syndrome	Associated morphology	False	Congenital hypopigmentation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Oculocutaneous albinism	Associated morphology	False	Congenital hypopigmentation	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Phylloid hypomelanosis	Associated morphology	False	Congenital hypopigmentation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Punctate oculocutaneous albinoidism	Associated morphology	False	Congenital hypopigmentation	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Oculocutaneous albinoidism	Associated morphology	False	Congenital hypopigmentation	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Aland eye disease and ocular albinism	Associated morphology	False	Congenital hypopigmentation	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Ocular albinism	Associated morphology	False	Congenital hypopigmentation	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Ocular albinism, type I	Associated morphology	False	Congenital hypopigmentation	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Autosomal recessive ocular albinism (disorder)	Associated morphology	False	Congenital hypopigmentation	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Hypopigmentation-immunodeficiency disease	Associated morphology	False	Congenital hypopigmentation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Ocular albinism-lentigines-deafness syndrome	Associated morphology	False	Congenital hypopigmentation	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Black locks, oculocutaneous albinism, AND deafness of the sensorineural type	Associated morphology	False	Congenital hypopigmentation	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital hypopigmentation of choroid (disorder)	Associated morphology	False	Congenital hypopigmentation	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Periodontitis co-occurrent with Chédiak-Higashi syndrome	Associated morphology	False	Congenital hypopigmentation	Inferred relationship	Existential restriction modifier (core metadata concept)	7
Congenital oculocutaneous hypopigmentation	Associated morphology	False	Congenital hypopigmentation	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Albinism co-occurrent with hematologic disorder (disorder)	Associated morphology	False	Congenital hypopigmentation	Inferred relationship	Existential restriction modifier (core metadata concept)	4
A form of oculocutaneous albinism characterized by varying degrees of skin and hair hypopigmentation, numerous ocular changes and misrouting of the optic nerves at the chiasm.	Associated morphology	False	Congenital hypopigmentation	Inferred relationship	Existential restriction modifier (core metadata concept)	4
A form of oculocutaneous albinism characterized by varying degrees of skin and hair hypopigmentation, numerous ocular changes and misrouting of the optic nerves at the chiasm.	Associated morphology	False	Congenital hypopigmentation	Inferred relationship	Existential restriction modifier (core metadata concept)	6
Oculocerebral hypopigmentation syndrome of Preus type (disorder)	Associated morphology	False	Congenital hypopigmentation	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Oculocerebral hypopigmentation syndrome of Preus type (disorder)	Associated morphology	False	Congenital hypopigmentation	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Piebaldism is a rare congenital pigmentation skin disorder characterized by the presence of hypopigmented and depigmented skin areas (leukoderma) on various parts of the body, preferentially on the forehead, chest, abdomen, upper arms, and lower extremities, that are associated with a white forelock (poliosis), and in some cases with hypopigmented and depigmented eyebrows and eyelashes.	Associated morphology	False	Congenital hypopigmentation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Microcephaly - albinism - digital anomalies syndrome is a very rare syndrome associating microcephaly, micrognathia, oculocutaneous albinism, hypoplasia of the distal phalanx of fingers and agenesia of the distal end of the right big toe.	Associated morphology	False	Congenital hypopigmentation	Inferred relationship	Existential restriction modifier (core metadata concept)	8
Microcephaly - albinism - digital anomalies syndrome is a very rare syndrome associating microcephaly, micrognathia, oculocutaneous albinism, hypoplasia of the distal phalanx of fingers and agenesia of the distal end of the right big toe.	Associated morphology	False	Congenital hypopigmentation	Inferred relationship	Existential restriction modifier (core metadata concept)	11
Congenital oculocutaneous hypopigmentation	Associated morphology	False	Congenital hypopigmentation	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Vici syndrome (disorder)	Associated morphology	False	Congenital hypopigmentation	Inferred relationship	Existential restriction modifier (core metadata concept)	8
Vici syndrome (disorder)	Associated morphology	False	Congenital hypopigmentation	Inferred relationship	Existential restriction modifier (core metadata concept)	6
Attenuated Chédiak-Higashi syndrome (disorder)	Associated morphology	False	Congenital hypopigmentation	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Deaf blind hypopigmentation syndrome Yemenite type	Associated morphology	False	Congenital hypopigmentation	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Ocular albinism with late-onset sensorineural deafness (disorder)	Associated morphology	False	Congenital hypopigmentation	Inferred relationship	Existential restriction modifier (core metadata concept)	7
Oculocutaneous albinism type 5 (disorder)	Associated morphology	False	Congenital hypopigmentation	Inferred relationship	Existential restriction modifier (core metadata concept)	6
A form of oculocutaneous albinism characterized by light hair at birth that darkens with age, white skin, transparent irides, photophobia, nystagmus, foveal hypoplasia and reduced visual acuity.	Associated morphology	False	Congenital hypopigmentation	Inferred relationship	Existential restriction modifier (core metadata concept)	6
A form of oculocutaneous albinism (OCA) characterised by skin and hair hypopigmentation (light blond to dark brown), nystagmus, iris transillumination, visual acuity ranging from 6/9 to 3/60 and hypopigmentation of the peripheral ocular fundus. Photophobia is not a major feature.	Associated morphology	False	Congenital hypopigmentation	Inferred relationship	Existential restriction modifier (core metadata concept)	6
Albinism with deafness syndrome	Associated morphology	False	Congenital hypopigmentation	Inferred relationship	Existential restriction modifier (core metadata concept)	6
Oculocutaneous albinism type 5 (disorder)	Associated morphology	False	Congenital hypopigmentation	Inferred relationship	Existential restriction modifier (core metadata concept)	4
A form of oculocutaneous albinism characterized by light hair at birth that darkens with age, white skin, transparent irides, photophobia, nystagmus, foveal hypoplasia and reduced visual acuity.	Associated morphology	False	Congenital hypopigmentation	Inferred relationship	Existential restriction modifier (core metadata concept)	4
A form of oculocutaneous albinism (OCA) characterised by skin and hair hypopigmentation (light blond to dark brown), nystagmus, iris transillumination, visual acuity ranging from 6/9 to 3/60 and hypopigmentation of the peripheral ocular fundus. Photophobia is not a major feature.	Associated morphology	False	Congenital hypopigmentation	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Ocular albinism with late-onset sensorineural deafness (disorder)	Associated morphology	False	Congenital hypopigmentation	Inferred relationship	Existential restriction modifier (core metadata concept)	6
Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder)	Associated morphology	False	Congenital hypopigmentation	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder)	Associated morphology	False	Congenital hypopigmentation	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Deafness, vitiligo, achalasia syndrome	Associated morphology	False	Congenital hypopigmentation	Inferred relationship	Existential restriction modifier (core metadata concept)	6
Oculocutaneous albinism type 1	Associated morphology	False	Congenital hypopigmentation	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Oculocutaneous albinism type 1	Associated morphology	False	Congenital hypopigmentation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Oculocutaneous albinism type 5 (disorder)	Associated morphology	False	Congenital hypopigmentation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
A form of oculocutaneous albinism (OCA) characterised by skin and hair hypopigmentation (light blond to dark brown), nystagmus, iris transillumination, visual acuity ranging from 6/9 to 3/60 and hypopigmentation of the peripheral ocular fundus. Photophobia is not a major feature.	Associated morphology	False	Congenital hypopigmentation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
A form of oculocutaneous albinism characterized by light hair at birth that darkens with age, white skin, transparent irides, photophobia, nystagmus, foveal hypoplasia and reduced visual acuity.	Associated morphology	False	Congenital hypopigmentation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Microcephaly - albinism - digital anomalies syndrome is a very rare syndrome associating microcephaly, micrognathia, oculocutaneous albinism, hypoplasia of the distal phalanx of fingers and agenesia of the distal end of the right big toe.	Associated morphology	False	Congenital hypopigmentation	Inferred relationship	Existential restriction modifier (core metadata concept)	4
A form of oculocutaneous albinism characterized by varying degrees of skin and hair hypopigmentation, numerous ocular changes and misrouting of the optic nerves at the chiasm.	Associated morphology	False	Congenital hypopigmentation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Disorder with characteristics of varying degrees of deafness and minor defects in structures arising from neural crest, including pigmentation anomalies of eyes, hair, and skin. Clinical manifestations vary within and between families. Frequent clinical manifestations include congenital sensorineural deafness, heterochromic or hypoplastic blue irides, white forelock or early greying of the scalp hair before the age of 30 years. The disease is genetically heterogeneous. To date, mutations in 6 different genes have been identified: PAX3 (2q36.1), MITF (3p14-p13), SNAI2 (8q11.21), SOX10 (22q13.1), EDNRB (13q22.3), and EDN3 (20q13.32).	Associated morphology	False	Congenital hypopigmentation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder)	Associated morphology	False	Congenital hypopigmentation	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Waardenburg-Shah syndrome (WSS), also known as Waardenburg syndrome type 4 (WS4) is characterized by the association of Waardenburg syndrome (sensorineural hearing loss and pigmentary abnormalities) and Hirschsprung disease (aganglionic megacolon).	Associated morphology	False	Congenital hypopigmentation	Inferred relationship	Existential restriction modifier (core metadata concept)	3

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Reference Sets

Concept inactivation indicator attribute value 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
138307014	Congenital hypopigmentation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
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	Only initial character 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