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89031001: Hypopigmentation (morphologic abnormality)

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
147619012 Hypopigmentation en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
831840012 Hypopigmentation (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hypopigmentation Is a Pigment alteration true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Woolf's syndrome Associated morphology False Hypopigmentation Inferred relationship Some 1
Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia. Associated morphology True Hypopigmentation Inferred relationship Some 3
Brown oculocutaneous albinism Associated morphology False Hypopigmentation Inferred relationship Some 2
Brown oculocutaneous albinism Associated morphology False Hypopigmentation 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 Hypopigmentation 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 Hypopigmentation 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 Hypopigmentation 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 Hypopigmentation Inferred relationship Some 2
Yemenite deaf-blind hypopigmentation syndrome is an exceedingly rare genetic disorder characterized by cutaneous pigmentation anomalies, ocular disorders and hearing loss. Associated morphology True Hypopigmentation Inferred relationship Some 2
Oculocutaneous albinism Associated morphology False Hypopigmentation Inferred relationship Some 2
Oculocutaneous albinism Associated morphology False Hypopigmentation Inferred relationship Some 1
Congenital hypopigmentation of choroid Associated morphology True Hypopigmentation Inferred relationship Some 1
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 Hypopigmentation 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 True Hypopigmentation Inferred relationship Some 1
Minimal pigment oculocutaneous albinism Associated morphology False Hypopigmentation Inferred relationship Some 2
Minimal pigment oculocutaneous albinism Associated morphology False Hypopigmentation Inferred relationship Some 1
Temperature-sensitive oculocutaneous albinism (disorder) Associated morphology False Hypopigmentation Inferred relationship Some 2
Temperature-sensitive oculocutaneous albinism (disorder) Associated morphology False Hypopigmentation Inferred relationship Some 1
Albinism Associated morphology False Hypopigmentation Inferred relationship Some 1
albinisme oculaire avec surdité neurosensorielle congénitale Associated morphology False Hypopigmentation Inferred relationship Some 2
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 True Hypopigmentation Inferred relationship Some 5
Chédiak-Higashi syndrome Associated morphology False Hypopigmentation Inferred relationship Some 1
Oculocutaneous albinoidism Associated morphology False Hypopigmentation Inferred relationship Some 1
Tyrosinase-negative oculocutaneous albinism Associated morphology False Hypopigmentation Inferred relationship Some 1
Tyrosinase-negative oculocutaneous albinism Associated morphology False Hypopigmentation Inferred relationship Some 2
Hermansky-Pudlak syndrome Associated morphology False Hypopigmentation Inferred relationship Some 2
Hermansky-Pudlak syndrome Associated morphology False Hypopigmentation Inferred relationship Some 1
Albinism co-occurrent with hematologic disorder (disorder) Associated morphology False Hypopigmentation Inferred relationship Some 1
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 Hypopigmentation Inferred relationship Some 1
Yellow mutant oculocutaneous albinism Associated morphology False Hypopigmentation Inferred relationship Some 2
Yellow mutant oculocutaneous albinism Associated morphology False Hypopigmentation Inferred relationship Some 1
Piebald trait-neurologic defects syndrome is a rare, genetic, pigmentation anomaly of the skin syndrome characterized by ventral as well as dorsal leukoderma of the trunk and a congenital white forelock, in association with cerebellar ataxia, impaired motor coordination, intellectual disability of variable severity and progressive, mild to profound, uni- or bilateral sensorineural hearing loss. There have been no further descriptions in the literature since 1971. Associated morphology True Hypopigmentation Inferred relationship Some 1
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 Hypopigmentation Inferred relationship Some 2
Congenital deficiency of pigment of skin Associated morphology True Hypopigmentation Inferred relationship Some 1
Periodontitis co-occurrent with Chédiak-Higashi syndrome Associated morphology False Hypopigmentation 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 False Hypopigmentation 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 Hypopigmentation Inferred relationship Some 2
Albinotic fundus Associated morphology True Hypopigmentation Inferred relationship Some 1
Partial albinism Associated morphology False Hypopigmentation Inferred relationship Some 1
Congenital oculocutaneous hypopigmentation Associated morphology True Hypopigmentation Inferred relationship Some 1
Congenital oculocutaneous hypopigmentation Associated morphology True Hypopigmentation Inferred relationship Some 2
Tyrosinase-positive oculocutaneous albinism Associated morphology False Hypopigmentation Inferred relationship Some 1
Tyrosinase-positive oculocutaneous albinism Associated morphology False Hypopigmentation Inferred relationship Some 2
Punctate oculocutaneous albinoidism Associated morphology False Hypopigmentation Inferred relationship Some 1
A rare genetic multiple congenital anomalies characterized by deafness and defects in neural crest-derived structures, including pigmentation anomalies of the eyes, hair, and skin. Four clinical phenotypes are associated with the term Waardenburg syndrome (WS). Associated morphology True Hypopigmentation Inferred relationship Some 1
Albinism-deafness syndrome of Tietz (disorder) Associated morphology False Hypopigmentation Inferred relationship Some 1
Vitiligo of pinta Associated morphology True Hypopigmentation Inferred relationship Some 1
Vitiligo of skin of left eyelid and periocular area (disorder) Associated morphology True Hypopigmentation Inferred relationship Some 1
Vitiligo of skin of left upper eyelid and periocular area (disorder) Associated morphology True Hypopigmentation Inferred relationship Some 1
Vitiligo of skin of right upper eyelid and periocular area (disorder) Associated morphology True Hypopigmentation Inferred relationship Some 1
Vitiligo of skin of right eyelid and periocular area (disorder) Associated morphology True Hypopigmentation Inferred relationship Some 1
Waardenburg syndrome type 3 Associated morphology False Hypopigmentation Inferred relationship Some 1
A subtype of Waardenburg syndrome (WS) with characteristics of congenital deafness, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin, in combination with dystopia canthorum. Caused by a heterozygous mutation in the paired box-containing PAX3 gene on chromosome 2q36.1. In the majority of cases, WS1 is transmitted as an autosomal dominant disorder with a large variable inter and intrafamilial expressivity. Some affected patients present with a de novo mutation. Associated morphology True Hypopigmentation Inferred relationship Some 1
An autosomal dominant subtype of Waardenburg syndrome (WS) with characteristics of varying degrees of deafness and pigmentation anomalies of eyes, hair and skin but without dystopia canthorum. The disease is genetically very heterogeneous, mutations have been found in MITF (3p14-p13; subtype designated as WS2A), SNAI2 (8q11.21; WS2D), and SOX10 (22q13.1; WS2E) genes. Furthermore WS2 loci have been mapped to chromosome 1p21-p13.3 (subtype designated as WS2B) and to chromosome 8p23 (designated as WS2C). Digenic inheritance of MITF mutation in combination a TYR mutation (and/or the TYRR402Q hypomorphic allele) has been reported in two families with WS2 and ocular albinism. In the majority of cases, WS2 is transmitted as an autosomal dominant disorder with a large variable inter and intrafamilial expressivity. Some affected patients present with a de novo mutation. Associated morphology True Hypopigmentation Inferred relationship Some 1
A rare, acquired, dermis elastic tissue disorder with decreased elastic tissue characterized by multiple, asymptomatic, well demarcated, flat, hypopigmented atrophic macular skin lesions distributed over upper trunk and proximal upper limbs. Histopathological examination reveals atrophic epidermis with decreased basal pigmentation, perivascular mononuclear infiltration in the upper dermis, and disorganized, hyalinized, coarse collagen bundles, and variable loss of elastic fibers in the dermis. Associated morphology True Hypopigmentation Inferred relationship Some 2
A rare ectodermal dysplasia syndrome characterized by linear hypopigmentation and hypotrichosis following the lines of Blaschko, symmetric or asymmetric facial dysmorphism, and body asymmetry, in association with ocular, dental, and acral anomalies. Reported manifestations include microphthalmia, strabismus, myopia, oligodontia, microdontia, conical teeth, abnormal enamel, brachydactyly, syndactyly, and broad first toe, as well as dysmorphic facial features such as downslanting palpebral fissures, broad nasal bridge, malar hypoplasia, and microstomia. Brain imaging may show cystic leukoencephalopathy and ventricular dilation. Associated morphology True Hypopigmentation Inferred relationship Some 5
Laser-induced hypopigmentation (disorder) Associated morphology True Hypopigmentation Inferred relationship Some 1
Hypopigmentation of left eyelid and periocular area Associated morphology True Hypopigmentation Inferred relationship Some 1
Hypopigmentation of right eyelid and periocular area (disorder) Associated morphology True Hypopigmentation Inferred relationship Some 1
Hypopigmentation of left lower eyelid and periocular area Associated morphology True Hypopigmentation Inferred relationship Some 1
Hypopigmentation of right lower eyelid and periocular area (disorder) Associated morphology True Hypopigmentation Inferred relationship Some 1
Vitiligo of skin of upper eyelid (disorder) Associated morphology True Hypopigmentation Inferred relationship Some 2
Vitiligo of skin of lower eyelid (disorder) Associated morphology True Hypopigmentation Inferred relationship Some 2
Progressive macular hypomelanosis Associated morphology True Hypopigmentation Inferred relationship Some 1
A very rare subtype of Waardenburg syndrome (WS) with characteristics of limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest, resulting in pigmentation anomalies of eyes, hair, and skin. Caused by heterozygous or homozygous mutations in the PAX3 (2q36.1) gene. Associated morphology True Hypopigmentation Inferred relationship Some 2
A subtype of Waardenburg syndrome (WS) with characteristics of congenital deafness, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin, in combination with dystopia canthorum. Caused by a heterozygous mutation in the paired box-containing PAX3 gene on chromosome 2q36.1. In the majority of cases, WS1 is transmitted as an autosomal dominant disorder with a large variable inter and intrafamilial expressivity. Some affected patients present with a de novo mutation. Associated morphology True Hypopigmentation Inferred relationship Some 5
An autosomal dominant subtype of Waardenburg syndrome (WS) with characteristics of varying degrees of deafness and pigmentation anomalies of eyes, hair and skin but without dystopia canthorum. The disease is genetically very heterogeneous, mutations have been found in MITF (3p14-p13; subtype designated as WS2A), SNAI2 (8q11.21; WS2D), and SOX10 (22q13.1; WS2E) genes. Furthermore WS2 loci have been mapped to chromosome 1p21-p13.3 (subtype designated as WS2B) and to chromosome 8p23 (designated as WS2C). Digenic inheritance of MITF mutation in combination a TYR mutation (and/or the TYRR402Q hypomorphic allele) has been reported in two families with WS2 and ocular albinism. In the majority of cases, WS2 is transmitted as an autosomal dominant disorder with a large variable inter and intrafamilial expressivity. Some affected patients present with a de novo mutation. Associated morphology True Hypopigmentation Inferred relationship Some 2
Vitiligo of mucous membrane (disorder) Associated morphology True Hypopigmentation Inferred relationship Some 1
Vitiligo of mucous membrane (disorder) Associated morphology True Hypopigmentation Inferred relationship Some 2
A disorder defined as retinal pigment disturbances including hypopigmentation and hyperpigmentation in colour fundus photographs that typically corresponded to hyperfluorescence and hypofluorescence in fluorescein angiogram images within or overlapping areas previously occupied by CNV (choroidal neovascularisation). Associated morphology True Hypopigmentation Inferred relationship Some 3
A combination of congenital hyperpigmented and hypopigmented skin lesions coexisting in the same individual. Associated morphology True Hypopigmentation Inferred relationship Some 2

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