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715630006: Familial progressive hyperpigmentation (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3303230012 Familial progressive hyperpigmentation (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3303231011 Familial progressive hyperpigmentation en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3303232016 Melanosis diffusa congenita en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3303233014 Melanosis universalis hereditaria en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3303234015 Universal melanosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5400994012 Familial progressive hyperpigmentation is a rare, genetic, skin pigmentation anomaly disorder characterized by irregular patches of hyperpigmented skin which present at birth or in early infancy and increase in size, number and confluence with age. Affected areas of the body include the face, neck, trunk and limbs, as well as the palms, soles, oral mucosa and conjunctiva. No hypopigmentation macules are observed and no systemic diseases are associated. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5400995013 Familial progressive hyperpigmentation is a rare, genetic, skin pigmentation anomaly disorder characterised by irregular patches of hyperpigmented skin which present at birth or in early infancy and increase in size, number and confluence with age. Affected areas of the body include the face, neck, trunk and limbs, as well as the palms, soles, oral mucosa and conjunctiva. No hypopigmentation macules are observed and no systemic diseases are associated. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Familial progressive hyperpigmentation (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Familial progressive hyperpigmentation (disorder) Is a Hereditary disorder of the integument false Inferred relationship Some
Familial progressive hyperpigmentation (disorder) Is a Hereditary hypermelanosis (disorder) true Inferred relationship Some
Familial progressive hyperpigmentation (disorder) Associated morphology Melanosis true Inferred relationship Some 1
Familial progressive hyperpigmentation (disorder) Finding site Skin structure true Inferred relationship Some 1
Familial progressive hyperpigmentation (disorder) Is a Genetic disorder of skin pigmentation (disorder) false Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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