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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
147619012 Hypopigmentation en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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 Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
Woolf's syndrome (disorder) Associated morphology False Hypopigmentation Inferred relationship Existential restriction modifier (core metadata concept) 1
Deafness, vitiligo, achalasia syndrome Associated morphology True Hypopigmentation Inferred relationship Existential restriction modifier (core metadata concept) 3
Brown oculocutaneous albinism Associated morphology False Hypopigmentation Inferred relationship Existential restriction modifier (core metadata concept) 2
Brown oculocutaneous albinism Associated morphology False 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 Hypopigmentation Inferred relationship Existential restriction modifier (core metadata concept) 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 Existential restriction modifier (core metadata concept) 4
Oculocutaneous albinism type 5 (disorder) Associated morphology False Hypopigmentation Inferred relationship Existential restriction modifier (core metadata concept) 1
Oculocutaneous albinism type 5 (disorder) Associated morphology False Hypopigmentation Inferred relationship Existential restriction modifier (core metadata concept) 2
Deaf blind hypopigmentation syndrome Yemenite type Associated morphology True Hypopigmentation Inferred relationship Existential restriction modifier (core metadata concept) 2
Oculocutaneous albinism Associated morphology False Hypopigmentation Inferred relationship Existential restriction modifier (core metadata concept) 2
Oculocutaneous albinism Associated morphology False Hypopigmentation Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital hypopigmentation of choroid (disorder) Associated morphology True Hypopigmentation Inferred relationship Existential restriction modifier (core metadata concept) 1
Oculocerebral hypopigmentation syndrome of Preus type (disorder) Associated morphology False Hypopigmentation Inferred relationship Existential restriction modifier (core metadata concept) 2
Oculocerebral hypopigmentation syndrome of Preus type (disorder) Associated morphology True Hypopigmentation Inferred relationship Existential restriction modifier (core metadata concept) 1
Minimal pigment oculocutaneous albinism Associated morphology False Hypopigmentation Inferred relationship Existential restriction modifier (core metadata concept) 2
Minimal pigment oculocutaneous albinism Associated morphology False Hypopigmentation Inferred relationship Existential restriction modifier (core metadata concept) 1
Temperature-sensitive oculocutaneous albinism Associated morphology False Hypopigmentation Inferred relationship Existential restriction modifier (core metadata concept) 2
Temperature-sensitive oculocutaneous albinism Associated morphology False Hypopigmentation Inferred relationship Existential restriction modifier (core metadata concept) 1
Albinism Associated morphology False Hypopigmentation Inferred relationship Existential restriction modifier (core metadata concept) 1
Okulärer Albinismus mit kongenitaler sensorineuraler Schwerhörigkeit Associated morphology False Hypopigmentation Inferred relationship Existential restriction modifier (core metadata concept) 2
Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder) Associated morphology True Hypopigmentation Inferred relationship Existential restriction modifier (core metadata concept) 5
Chédiak-Higashi syndrome Associated morphology False Hypopigmentation Inferred relationship Existential restriction modifier (core metadata concept) 1
Oculocutaneous albinoidism Associated morphology False Hypopigmentation Inferred relationship Existential restriction modifier (core metadata concept) 1
Tyrosinase-negative oculocutaneous albinism Associated morphology False Hypopigmentation Inferred relationship Existential restriction modifier (core metadata concept) 1
Tyrosinase-negative oculocutaneous albinism Associated morphology False Hypopigmentation Inferred relationship Existential restriction modifier (core metadata concept) 2
Hermansky-Pudlak syndrome Associated morphology False Hypopigmentation Inferred relationship Existential restriction modifier (core metadata concept) 2
Hermansky-Pudlak syndrome Associated morphology False Hypopigmentation Inferred relationship Existential restriction modifier (core metadata concept) 1
Albinism co-occurrent with hematologic disorder (disorder) Associated morphology False Hypopigmentation Inferred relationship Existential restriction modifier (core metadata concept) 1
Albinism with deafness syndrome Associated morphology False Hypopigmentation Inferred relationship Existential restriction modifier (core metadata concept) 1
Yellow mutant oculocutaneous albinism (disorder) Associated morphology False Hypopigmentation Inferred relationship Existential restriction modifier (core metadata concept) 2
Yellow mutant oculocutaneous albinism (disorder) Associated morphology False Hypopigmentation Inferred relationship Existential restriction modifier (core metadata concept) 1
Piebald trait with neurologic defects syndrome (disorder) Associated morphology True Hypopigmentation Inferred relationship Existential restriction modifier (core metadata concept) 1
Attenuated Chédiak-Higashi syndrome (disorder) Associated morphology False Hypopigmentation Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital deficiency of pigment of skin Associated morphology True Hypopigmentation Inferred relationship Existential restriction modifier (core metadata concept) 1
Periodontitis co-occurrent with Chédiak-Higashi syndrome Associated morphology False Hypopigmentation Inferred relationship Existential restriction modifier (core metadata concept) 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 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 Hypopigmentation Inferred relationship Existential restriction modifier (core metadata concept) 2
Albinotic fundus (disorder) Associated morphology True Hypopigmentation Inferred relationship Existential restriction modifier (core metadata concept) 1
Partial albinism Associated morphology False Hypopigmentation Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital oculocutaneous hypopigmentation Associated morphology True Hypopigmentation Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital oculocutaneous hypopigmentation Associated morphology True Hypopigmentation Inferred relationship Existential restriction modifier (core metadata concept) 2
Tyrosinase-positive oculocutaneous albinism Associated morphology False Hypopigmentation Inferred relationship Existential restriction modifier (core metadata concept) 1
Tyrosinase-positive oculocutaneous albinism Associated morphology False Hypopigmentation Inferred relationship Existential restriction modifier (core metadata concept) 2
Punctate oculocutaneous albinoidism Associated morphology False 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 True Hypopigmentation Inferred relationship Existential restriction modifier (core metadata concept) 1
Albinism-deafness syndrome of Tietz (disorder) Associated morphology False Hypopigmentation Inferred relationship Existential restriction modifier (core metadata concept) 1
Vitiligo of pinta (disorder) Associated morphology True Hypopigmentation Inferred relationship Existential restriction modifier (core metadata concept) 1
Vitiligo of skin of left eyelid and periocular area (disorder) Associated morphology True Hypopigmentation Inferred relationship Existential restriction modifier (core metadata concept) 1
Vitiligo of skin of left upper eyelid and periocular area Associated morphology True Hypopigmentation Inferred relationship Existential restriction modifier (core metadata concept) 1
Vitiligo of skin of right upper eyelid and periocular area (disorder) Associated morphology True Hypopigmentation Inferred relationship Existential restriction modifier (core metadata concept) 1
Vitiligo of skin of right eyelid and periocular area Associated morphology True Hypopigmentation Inferred relationship Existential restriction modifier (core metadata concept) 1
Waardenburg syndrome type 3 Associated morphology False Hypopigmentation Inferred relationship Existential restriction modifier (core metadata concept) 1
Waardenburg syndrome type 1 (disorder) Associated morphology True Hypopigmentation Inferred relationship Existential restriction modifier (core metadata concept) 1
Waardenburg syndrome type 2 (disorder) Associated morphology True Hypopigmentation Inferred relationship Existential restriction modifier (core metadata concept) 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 Existential restriction modifier (core metadata concept) 2
Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies (disorder) Associated morphology True Hypopigmentation Inferred relationship Existential restriction modifier (core metadata concept) 5
Laser-induced hypopigmentation (disorder) Associated morphology True Hypopigmentation Inferred relationship Existential restriction modifier (core metadata concept) 1
Hypopigmentation of left eyelid and periocular area Associated morphology True Hypopigmentation Inferred relationship Existential restriction modifier (core metadata concept) 1
Hypopigmentation of right eyelid and periocular area (disorder) Associated morphology True Hypopigmentation Inferred relationship Existential restriction modifier (core metadata concept) 1
Hypopigmentation of left lower eyelid and periocular area Associated morphology True Hypopigmentation Inferred relationship Existential restriction modifier (core metadata concept) 1
Hypopigmentation of right lower eyelid and periocular area (disorder) Associated morphology True Hypopigmentation Inferred relationship Existential restriction modifier (core metadata concept) 1
Vitiligo of upper eyelid Associated morphology True Hypopigmentation Inferred relationship Existential restriction modifier (core metadata concept) 2
Vitiligo of skin of lower eyelid (disorder) Associated morphology True Hypopigmentation Inferred relationship Existential restriction modifier (core metadata concept) 2
Progressive macular hypomelanosis Associated morphology True Hypopigmentation Inferred relationship Existential restriction modifier (core metadata concept) 1
Waardenburg syndrome type 3 (disorder) Associated morphology True Hypopigmentation Inferred relationship Existential restriction modifier (core metadata concept) 2
Waardenburg syndrome type 1 (disorder) Associated morphology True Hypopigmentation Inferred relationship Existential restriction modifier (core metadata concept) 5
Waardenburg syndrome type 2 (disorder) Associated morphology True Hypopigmentation Inferred relationship Existential restriction modifier (core metadata concept) 2
Vitiligo of mucous membrane (disorder) Associated morphology True Hypopigmentation Inferred relationship Existential restriction modifier (core metadata concept) 1
Vitiligo of mucous membrane (disorder) Associated morphology True Hypopigmentation Inferred relationship Existential restriction modifier (core metadata concept) 2
Nongeographic atrophy of macula Associated morphology True Hypopigmentation Inferred relationship Existential restriction modifier (core metadata concept) 3
Cutis tricolor Associated morphology True Hypopigmentation Inferred relationship Existential restriction modifier (core metadata concept) 2

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