FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.4-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

763368004: Familial progressive hyperpigmentation and hypopigmentation of skin (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3640240015 Familial progressive hyperpigmentation and hypopigmentation of skin en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3640241016 Familial progressive hyper and hypopigmentation en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3640242011 Familial progressive hyperpigmentation and hypopigmentation of skin (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5404038017 Familial progressive hyper- and hypopigmentation is a rare, genetic, skin pigmentation anomaly disorder characterized by progressive, diffuse, partly blotchy, hyperpigmented lesions that are intermixed with multiple café-au-lait spots, hypopigmented maculae and lentigines and are located on the face, neck, trunk and limbs, as well as, frequently, the palms, soles and oral mucosa. Dyspigmentation pattern can range from well isolated café-au-lait/hypopigmented patches on a background of normal-appearing skin to confetti-like or mottled appearance. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404039013 Familial progressive hyper- and hypopigmentation is a rare, genetic, skin pigmentation anomaly disorder characterised by progressive, diffuse, partly blotchy, hyperpigmented lesions that are intermixed with multiple café-au-lait spots, hypopigmented maculae and lentigines and are located on the face, neck, trunk and limbs, as well as, frequently, the palms, soles and oral mucosa. Dyspigmentation pattern can range from well isolated café-au-lait/hypopigmented patches on a background of normal-appearing skin to confetti-like or mottled appearance. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3640240015 Familial progressive hyperpigmentation and hypopigmentation of skin en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3640241016 Familial progressive hyper and hypopigmentation en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3640242011 Familial progressive hyperpigmentation and hypopigmentation of skin (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3657277015 A rare genetic skin pigmentation anomaly disorder with characteristics of progressive, diffuse, partly blotchy, hyperpigmented lesions that are intermixed with multiple cafe au lait spots, hypopigmented maculae and lentigines and are located on the face, neck, trunk and limbs, as well as, frequently, the palms, soles and oral mucosa. Dyspigmentation pattern can range from well isolated cafe au lait/hypopigmented patches on a background of normal-appearing skin to confetti-like or mottled appearance. There is evidence this disease is caused by heterozygous mutation in the KIT ligand gene (KITLG) on chromosome 12q22. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404038017 Familial progressive hyper- and hypopigmentation is a rare, genetic, skin pigmentation anomaly disorder characterized by progressive, diffuse, partly blotchy, hyperpigmented lesions that are intermixed with multiple café-au-lait spots, hypopigmented maculae and lentigines and are located on the face, neck, trunk and limbs, as well as, frequently, the palms, soles and oral mucosa. Dyspigmentation pattern can range from well isolated café-au-lait/hypopigmented patches on a background of normal-appearing skin to confetti-like or mottled appearance. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404039013 Familial progressive hyper- and hypopigmentation is a rare, genetic, skin pigmentation anomaly disorder characterised by progressive, diffuse, partly blotchy, hyperpigmented lesions that are intermixed with multiple café-au-lait spots, hypopigmented maculae and lentigines and are located on the face, neck, trunk and limbs, as well as, frequently, the palms, soles and oral mucosa. Dyspigmentation pattern can range from well isolated café-au-lait/hypopigmented patches on a background of normal-appearing skin to confetti-like or mottled appearance. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3383221001000113 Hyper- und Hypopigmentation, familiäre progressive de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6158091000241113 hyper-et hypopigmentation progressive familiale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6158101000241116 hyperpigmentation et hypopigmentation progressives familiales de la peau fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6158111000241119 FPHH - familial progressive hyperpigmentation and hypopigmentation fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6158091000241113 hyper-et hypopigmentation progressive familiale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6158101000241116 hyperpigmentation et hypopigmentation progressives familiales de la peau fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6158111000241119 FPHH - familial progressive hyperpigmentation and hypopigmentation fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3383221001000113 Hyper- und Hypopigmentation, familiäre progressive de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Familial progressive hyper and hypopigmentation Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Familial progressive hyper and hypopigmentation Is a Congenital pigmentary skin anomalies true Inferred relationship Existential restriction modifier (core metadata concept)
Familial progressive hyper and hypopigmentation Is a Genetic disorder of skin pigmentation (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Familial progressive hyper and hypopigmentation Associated morphology Pigment alteration false Inferred relationship Existential restriction modifier (core metadata concept) 2
Familial progressive hyper and hypopigmentation Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 2
Familial progressive hyper and hypopigmentation Finding site Skin structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Familial progressive hyper and hypopigmentation Finding site Skin structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Familial progressive hyper and hypopigmentation Associated morphology Pigment alteration true Inferred relationship Existential restriction modifier (core metadata concept) 1
Familial progressive hyper and hypopigmentation Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Familial progressive hyper and hypopigmentation Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 1
Familial progressive hyper and hypopigmentation Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Familial progressive hyper and hypopigmentation Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Familial progressive hyper and hypopigmentation Is a Hereditary disorder of the integument (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

Back to Start