37257004: Decreased melanin pigmentation (morphologic abnormality)

SNOMED CT Concept\Body structure\Body structure, altered from its original anatomical structure (morphologic abnormality)\Morphologically abnormal structure\Lesion (morphologic abnormality)\Pigment alteration\...

\Hypopigmentation\Decreased melanin pigmentation

\Abnormal melanin pigmentation\Decreased melanin pigmentation

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

62162011 Decreased melanin pigmentation en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

769103011 Decreased melanin pigmentation (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2676491000005114 nedsat melaninpigmentering da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Decreased melanin pigmentation	Is a	Hypopigmentation	true	Inferred relationship	Some
Decreased melanin pigmentation	Is a	Abnormal melanin pigmentation	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Tyrosinase-negative oculocutaneous albinism	Associated morphology	False	Decreased melanin pigmentation	Inferred relationship	Some	3
Temperature-sensitive oculocutaneous albinism	Associated morphology	False	Decreased melanin pigmentation	Inferred relationship	Some	3
Cross syndrome	Associated morphology	False	Decreased melanin pigmentation	Inferred relationship	Some	5
Chédiak-Higashi syndrome	Associated morphology	True	Decreased melanin pigmentation	Inferred relationship	Some	2
Oculocutaneous albinism	Associated morphology	False	Decreased melanin pigmentation	Inferred relationship	Some	3
Phylloid hypomelanosis (disorder)	Associated morphology	False	Decreased melanin pigmentation	Inferred relationship	Some	2
Black locks, oculocutaneous albinism, AND deafness of the sensorineural type	Associated morphology	True	Decreased melanin pigmentation	Inferred relationship	Some	2
Punctate oculocutaneous albinoidism	Associated morphology	True	Decreased melanin pigmentation	Inferred relationship	Some	2
Okulokutan albinoidisme	Associated morphology	False	Decreased melanin pigmentation	Inferred relationship	Some	2
Aland eye disease and ocular albinism	Associated morphology	False	Decreased melanin pigmentation	Inferred relationship	Some	2
Ocular albinism	Associated morphology	False	Decreased melanin pigmentation	Inferred relationship	Some	2
Ocular albinism, type I	Associated morphology	False	Decreased melanin pigmentation	Inferred relationship	Some	2
Autosomal recessive ocular albinism	Associated morphology	False	Decreased melanin pigmentation	Inferred relationship	Some	2
Hypopigmentation-immunodeficiency disease	Associated morphology	False	Decreased melanin pigmentation	Inferred relationship	Some	2
Partial albinism (disorder)	Associated morphology	True	Decreased melanin pigmentation	Inferred relationship	Some	1
Albinism-deafness syndrome of Tietz (disorder)	Associated morphology	True	Decreased melanin pigmentation	Inferred relationship	Some	1
Okulær albinisme-lentigines-døvhedssyndrom	Associated morphology	False	Decreased melanin pigmentation	Inferred relationship	Some	4
Albinism	Associated morphology	True	Decreased melanin pigmentation	Inferred relationship	Some	1
Ziprkowski-Margolis syndrome (disorder)	Associated morphology	True	Decreased melanin pigmentation	Inferred relationship	Some	1
Woolf's syndrome	Associated morphology	True	Decreased melanin pigmentation	Inferred relationship	Some	1
Phylloid hypomelanosis (disorder)	Associated morphology	True	Decreased melanin pigmentation	Inferred relationship	Some	1
Black locks, oculocutaneous albinism, AND deafness of the sensorineural type	Associated morphology	False	Decreased melanin pigmentation	Inferred relationship	Some	3
Brown oculocutaneous albinism	Associated morphology	True	Decreased melanin pigmentation	Inferred relationship	Some	2
Rufous albinism	Associated morphology	True	Decreased melanin pigmentation	Inferred relationship	Some	2
Hermansky-Pudlak syndrome	Associated morphology	True	Decreased melanin pigmentation	Inferred relationship	Some	2
Tyrosinase-positive oculocutaneous albinism	Associated morphology	True	Decreased melanin pigmentation	Inferred relationship	Some	2
Minimal pigment oculocutaneous albinism	Associated morphology	True	Decreased melanin pigmentation	Inferred relationship	Some	2
Yellow mutant oculocutaneous albinism	Associated morphology	True	Decreased melanin pigmentation	Inferred relationship	Some	2
Tyrosinase-negative oculocutaneous albinism	Associated morphology	True	Decreased melanin pigmentation	Inferred relationship	Some	2
Temperature-sensitive oculocutaneous albinism	Associated morphology	True	Decreased melanin pigmentation	Inferred relationship	Some	2
Oculocutaneous albinism	Associated morphology	True	Decreased melanin pigmentation	Inferred relationship	Some	2
Periodontitis co-occurrent with Chédiak-Higashi syndrome	Associated morphology	False	Decreased melanin pigmentation	Inferred relationship	Some	6
Arsenic-induced rain-drop hypomelanosis	Associated morphology	False	Decreased melanin pigmentation	Inferred relationship	Some	2
Albinism co-occurrent with hematologic disorder (disorder)	Associated morphology	False	Decreased melanin pigmentation	Inferred relationship	Some	3
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	Decreased melanin pigmentation	Inferred relationship	Some	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	Decreased melanin pigmentation	Inferred relationship	Some	5
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	Decreased melanin pigmentation	Inferred relationship	Some	10
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	Decreased melanin pigmentation	Inferred relationship	Some	8
A very rare and atypical form of Chédiak-Higashi syndrome (CHS), a genetic disorder characterized by partial oculocutaneous albinism, severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder.	Associated morphology	True	Decreased melanin pigmentation	Inferred relationship	Some	4
A very rare and atypical form of Chédiak-Higashi syndrome (CHS), a genetic disorder characterized by partial oculocutaneous albinism, severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder.	Associated morphology	False	Decreased melanin pigmentation	Inferred relationship	Some	5
Ocular albinism with late-onset sensorineural deafness is a rare, X-linked inherited subtype of ocular albinism characterized by severe visual impairment, translucent pale-blue irises, a reduction in the retinal pigment and moderately severe deafness with onset ranging from adolescence to fourth or fifth decade of life.	Associated morphology	False	Decreased melanin pigmentation	Inferred relationship	Some	6
Ocular albinism with late-onset sensorineural deafness is a rare, X-linked inherited subtype of ocular albinism characterized by severe visual impairment, translucent pale-blue irises, a reduction in the retinal pigment and moderately severe deafness with onset ranging from adolescence to fourth or fifth decade of life.	Associated morphology	False	Decreased melanin pigmentation	Inferred relationship	Some	8
A form of oculocutaneous albinism characterized by white skin, golden hair, photophobia, nystagmus, foveal hypoplasia and impaired visual acuity, that affects males and females equally. Patients have been reported only in a consanguineous Pakistani family. The responsible gene has not yet been detected.	Associated morphology	False	Decreased melanin pigmentation	Inferred relationship	Some	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	Decreased melanin pigmentation	Inferred relationship	Some	4
A form of oculocutaneous albinism (OCA) characterized 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	Decreased melanin pigmentation	Inferred relationship	Some	4
A form of oculocutaneous albinism characterized by white skin, golden hair, photophobia, nystagmus, foveal hypoplasia and impaired visual acuity, that affects males and females equally. Patients have been reported only in a consanguineous Pakistani family. The responsible gene has not yet been detected.	Associated morphology	False	Decreased melanin pigmentation	Inferred relationship	Some	5
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	Decreased melanin pigmentation	Inferred relationship	Some	5
A form of oculocutaneous albinism (OCA) characterized 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	Decreased melanin pigmentation	Inferred relationship	Some	5
A rare disorder characterized by congenital nerve deafness and piebaldness with no ocular albinism. It has been described in one large pedigree. Transmission is X-linked with affected males presenting with profound sensorineural deafness and severe pigmentary abnormalities of the skin, and carrier females presenting with variable hearing impairment without any pigmentary changes. The causative gene has been mapped to Xq26.3-q27.1.	Associated morphology	False	Decreased melanin pigmentation	Inferred relationship	Some	7
A form of oculocutaneous albinism (OCA) characterized by a spectrum of hypopigmentation of skin hair and eyes, ranging from little or no pigmentation to localized pigmentation. Nystagmus, photophobia and reduced visual acuity are frequently present. The subtypes include OCA1A, OCA1B, type 1 minimal pigment oculocutaneous albinism (OCA1-MP) and type 1 temperature sensitive oculocutaneous albinism (OCA1-TS).	Associated morphology	False	Decreased melanin pigmentation	Inferred relationship	Some	3
Syphilitic leukoderma	Associated morphology	False	Decreased melanin pigmentation	Inferred relationship	Some	2
Ocular albinism with late-onset sensorineural deafness is a rare, X-linked inherited subtype of ocular albinism characterized by severe visual impairment, translucent pale-blue irises, a reduction in the retinal pigment and moderately severe deafness with onset ranging from adolescence to fourth or fifth decade of life.	Associated morphology	True	Decreased melanin pigmentation	Inferred relationship	Some	1
Ocular albinism with congenital sensorineural deafness	Associated morphology	False	Decreased melanin pigmentation	Inferred relationship	Some	3
A form of oculocutaneous albinism characterized by white skin, golden hair, photophobia, nystagmus, foveal hypoplasia and impaired visual acuity, that affects males and females equally. Patients have been reported only in a consanguineous Pakistani family. The responsible gene has not yet been detected.	Associated morphology	True	Decreased melanin pigmentation	Inferred relationship	Some	2
A form of oculocutaneous albinism characterized by white skin, golden hair, photophobia, nystagmus, foveal hypoplasia and impaired visual acuity, that affects males and females equally. Patients have been reported only in a consanguineous Pakistani family. The responsible gene has not yet been detected.	Associated morphology	True	Decreased melanin pigmentation	Inferred relationship	Some	1
Cross syndrome	Associated morphology	True	Decreased melanin pigmentation	Inferred relationship	Some	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	True	Decreased melanin pigmentation	Inferred relationship	Some	2
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	True	Decreased melanin pigmentation	Inferred relationship	Some	1
A form of oculocutaneous albinism (OCA) characterized 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	True	Decreased melanin pigmentation	Inferred relationship	Some	2
A form of oculocutaneous albinism (OCA) characterized 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	True	Decreased melanin pigmentation	Inferred relationship	Some	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	True	Decreased melanin pigmentation	Inferred relationship	Some	5
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	True	Decreased melanin pigmentation	Inferred relationship	Some	4
Punctate oculocutaneous albinoidism	Associated morphology	True	Decreased melanin pigmentation	Inferred relationship	Some	1
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	True	Decreased melanin pigmentation	Inferred relationship	Some	2
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	True	Decreased melanin pigmentation	Inferred relationship	Some	1
A form of oculocutaneous albinism (OCA) characterized by a spectrum of hypopigmentation of skin hair and eyes, ranging from little or no pigmentation to localized pigmentation. Nystagmus, photophobia and reduced visual acuity are frequently present. The subtypes include OCA1A, OCA1B, type 1 minimal pigment oculocutaneous albinism (OCA1-MP) and type 1 temperature sensitive oculocutaneous albinism (OCA1-TS).	Associated morphology	True	Decreased melanin pigmentation	Inferred relationship	Some	2
A form of oculocutaneous albinism (OCA) characterized by a spectrum of hypopigmentation of skin hair and eyes, ranging from little or no pigmentation to localized pigmentation. Nystagmus, photophobia and reduced visual acuity are frequently present. The subtypes include OCA1A, OCA1B, type 1 minimal pigment oculocutaneous albinism (OCA1-MP) and type 1 temperature sensitive oculocutaneous albinism (OCA1-TS).	Associated morphology	True	Decreased melanin pigmentation	Inferred relationship	Some	1
Periodontitis co-occurrent with Chédiak-Higashi syndrome	Associated morphology	False	Decreased melanin pigmentation	Inferred relationship	Some	4
Hypopigmentation-immunodeficiency disease	Associated morphology	True	Decreased melanin pigmentation	Inferred relationship	Some	3
Albinism co-occurrent with hematologic disorder (disorder)	Associated morphology	True	Decreased melanin pigmentation	Inferred relationship	Some	2
A rare disorder characterized by congenital nerve deafness and piebaldness with no ocular albinism. It has been described in one large pedigree. Transmission is X-linked with affected males presenting with profound sensorineural deafness and severe pigmentary abnormalities of the skin, and carrier females presenting with variable hearing impairment without any pigmentary changes. The causative gene has been mapped to Xq26.3-q27.1.	Associated morphology	False	Decreased melanin pigmentation	Inferred relationship	Some	4
Hypomelanotic sarcoidosis (disorder)	Associated morphology	True	Decreased melanin pigmentation	Inferred relationship	Some	3
Hypopigmentation-immunodeficiency disease type 1 (disorder)	Associated morphology	True	Decreased melanin pigmentation	Inferred relationship	Some	1
Hypopigmentation-immunodeficiency disease type 3 (disorder)	Associated morphology	True	Decreased melanin pigmentation	Inferred relationship	Some	1
Oculocutaneous albinism type 8 (disorder)	Associated morphology	True	Decreased melanin pigmentation	Inferred relationship	Some	1
Oculocutaneous albinism type 8 (disorder)	Associated morphology	True	Decreased melanin pigmentation	Inferred relationship	Some	2
A rare syndromic optic nerve hypoplasia with characteristics of coloboma, osteopetrosis (particularly of the anterior ribs and femoral heads), severe microphthalmia, macrocephaly, albinism, and profound congenital deafness. Patients may also have additional eye anomalies including microcornea with pannus, dense bilateral cataracts, and translucent irides. Craniofacial dysmorphism (including frontal bossing, shallow orbits, preauricular pits, posteriorly rotated ears, micrognathia and wide palatine ridges) is also reported.	Associated morphology	True	Decreased melanin pigmentation	Inferred relationship	Some	3
A rare syndromic optic nerve hypoplasia with characteristics of coloboma, osteopetrosis (particularly of the anterior ribs and femoral heads), severe microphthalmia, macrocephaly, albinism, and profound congenital deafness. Patients may also have additional eye anomalies including microcornea with pannus, dense bilateral cataracts, and translucent irides. Craniofacial dysmorphism (including frontal bossing, shallow orbits, preauricular pits, posteriorly rotated ears, micrognathia and wide palatine ridges) is also reported.	Associated morphology	True	Decreased melanin pigmentation	Inferred relationship	Some	12

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Id	Description	Lang	Type	Status	Case?	Module
62162011	Decreased melanin pigmentation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
769103011	Decreased melanin pigmentation (morphologic abnormality)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2676491000005114	nedsat melaninpigmentering	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)