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:

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

2838231000005117 Kongenit hypopigmentering 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
Kongenit hypopigmentering	Is a	kongenit pigmentering	false	Inferred relationship	Some
Kongenit hypopigmentering	Is a	Hypopigmentation	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Cross syndrome	Associated morphology	False	Kongenit hypopigmentering	Inferred relationship	Some	6
Chédiak-Higashi syndrome	Associated morphology	False	Kongenit hypopigmentering	Inferred relationship	Some	1
Oculocutaneous albinism	Associated morphology	False	Kongenit hypopigmentering	Inferred relationship	Some	2
Phylloid hypomelanosis (disorder)	Associated morphology	False	Kongenit hypopigmentering	Inferred relationship	Some	1
Punctate oculocutaneous albinoidism	Associated morphology	False	Kongenit hypopigmentering	Inferred relationship	Some	3
Okulokutan albinoidisme	Associated morphology	False	Kongenit hypopigmentering	Inferred relationship	Some	3
Aland eye disease and ocular albinism	Associated morphology	False	Kongenit hypopigmentering	Inferred relationship	Some	3
Ocular albinism	Associated morphology	False	Kongenit hypopigmentering	Inferred relationship	Some	3
Ocular albinism, type I	Associated morphology	False	Kongenit hypopigmentering	Inferred relationship	Some	3
Autosomal recessive ocular albinism	Associated morphology	False	Kongenit hypopigmentering	Inferred relationship	Some	3
Hypopigmentation-immunodeficiency disease	Associated morphology	False	Kongenit hypopigmentering	Inferred relationship	Some	1
Okulær albinisme-lentigines-døvhedssyndrom	Associated morphology	False	Kongenit hypopigmentering	Inferred relationship	Some	3
Black locks, oculocutaneous albinism, AND deafness of the sensorineural type	Associated morphology	False	Kongenit hypopigmentering	Inferred relationship	Some	2
Congenital hypopigmentation of choroid	Associated morphology	False	Kongenit hypopigmentering	Inferred relationship	Some	3
Periodontitis co-occurrent with Chédiak-Higashi syndrome	Associated morphology	False	Kongenit hypopigmentering	Inferred relationship	Some	7
Congenital oculocutaneous hypopigmentation	Associated morphology	False	Kongenit hypopigmentering	Inferred relationship	Some	3
Albinism co-occurrent with hematologic disorder (disorder)	Associated morphology	False	Kongenit hypopigmentering	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	Kongenit hypopigmentering	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	Kongenit hypopigmentering	Inferred relationship	Some	6
Oculocerebral hypopigmentation syndrome, Preus type is a rare congenital syndrome characterized by skin and hair hypopigmentation, growth retardation, and intellectual deficit that are associated with a combination of various additional clinical anomalies such as ocular albinism, cataract, delayed neuro-psychomotor development, sensorineural hearing loss, dolicocephaly, high arched palate, widely spaced teeth, anemia, and/or nystagmus.	Associated morphology	False	Kongenit hypopigmentering	Inferred relationship	Some	2
Oculocerebral hypopigmentation syndrome, Preus type is a rare congenital syndrome characterized by skin and hair hypopigmentation, growth retardation, and intellectual deficit that are associated with a combination of various additional clinical anomalies such as ocular albinism, cataract, delayed neuro-psychomotor development, sensorineural hearing loss, dolicocephaly, high arched palate, widely spaced teeth, anemia, and/or nystagmus.	Associated morphology	False	Kongenit hypopigmentering	Inferred relationship	Some	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	Kongenit hypopigmentering	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	False	Kongenit hypopigmentering	Inferred relationship	Some	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	Kongenit hypopigmentering	Inferred relationship	Some	11
Congenital oculocutaneous hypopigmentation	Associated morphology	False	Kongenit hypopigmentering	Inferred relationship	Some	4
Vici syndrome is a very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency.	Associated morphology	False	Kongenit hypopigmentering	Inferred relationship	Some	8
Vici syndrome is a very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency.	Associated morphology	False	Kongenit hypopigmentering	Inferred relationship	Some	6
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	Kongenit hypopigmentering	Inferred relationship	Some	4
Yemenite deaf-blind hypopigmentation syndrome is an exceedingly rare genetic disorder characterized by cutaneous pigmentation anomalies, ocular disorders and hearing loss.	Associated morphology	False	Kongenit hypopigmentering	Inferred relationship	Some	4
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	Kongenit hypopigmentering	Inferred relationship	Some	7
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	Kongenit hypopigmentering	Inferred relationship	Some	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	Kongenit hypopigmentering	Inferred relationship	Some	6
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	Kongenit hypopigmentering	Inferred relationship	Some	6
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	Kongenit hypopigmentering	Inferred relationship	Some	6
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	Kongenit hypopigmentering	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	Kongenit hypopigmentering	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	Kongenit hypopigmentering	Inferred relationship	Some	4
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	Kongenit hypopigmentering	Inferred relationship	Some	6
A rare genetic disease characterized by congenital oculocutaneous hypopigmentation, visual impairment, generalized osteoporosis with skeletal anomalies such as short stature, short neck and trunk, kyphosis, scoliosis, and platyspondyly, and dysmorphic facial features (including long philtrum, small mouth, micrognathia, and prominent ears). Moderate joint hyperelasticity and muscular hypotrophy have also been reported.	Associated morphology	False	Kongenit hypopigmentering	Inferred relationship	Some	4
A rare genetic disease characterized by congenital oculocutaneous hypopigmentation, visual impairment, generalized osteoporosis with skeletal anomalies such as short stature, short neck and trunk, kyphosis, scoliosis, and platyspondyly, and dysmorphic facial features (including long philtrum, small mouth, micrognathia, and prominent ears). Moderate joint hyperelasticity and muscular hypotrophy have also been reported.	Associated morphology	False	Kongenit hypopigmentering	Inferred relationship	Some	5
Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia.	Associated morphology	False	Kongenit hypopigmentering	Inferred relationship	Some	6
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	Kongenit hypopigmentering	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	False	Kongenit hypopigmentering	Inferred relationship	Some	1
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	Kongenit hypopigmentering	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	False	Kongenit hypopigmentering	Inferred relationship	Some	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	Kongenit hypopigmentering	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	False	Kongenit hypopigmentering	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	Kongenit hypopigmentering	Inferred relationship	Some	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 graying 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	Kongenit hypopigmentering	Inferred relationship	Some	1
Peripheral demyelinating neuropathy-central dysmyelinating leucodystrophy-Waardenburg syndrome-Hirschsprung disease (PCWH) is a systemic disease characterised by the association of the features of Waardenburg-Shah syndrome (WSS) with neurological features of variable severity.	Associated morphology	False	Kongenit hypopigmentering	Inferred relationship	Some	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	Kongenit hypopigmentering	Inferred relationship	Some	3

Start Page 2 of 2

Reference Sets

Concept inactivation indicator reference set

SAME AS association reference set (foundation metadata concept)

Back to Start

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
2838231000005117	Kongenit hypopigmentering	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)