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1197360001: X-linked dominant erythropoietic protoporphyria (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 28-Feb 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5399726017 A rare disorder of heme metabolism characterized by severe cutaneous photosensitivity in affected boys and sometimes in girls, manifesting in childhood. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5399727014 A rare disorder of haem metabolism characterised by severe cutaneous photosensitivity in affected boys and sometimes in girls, manifesting in childhood. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
4696003018 X-linked dominant erythropoietic protoporphyria en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
4696006014 X-linked dominant erythropoietic protoporphyria (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
7732391000241119 protoporphyrie érythropoïétique dominante liée à l'X fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3451571001000114 Protoporphyrie, erythropoetische, X-chromosomale 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
A rare disorder of heme metabolism characterized by severe cutaneous photosensitivity in affected boys and sometimes in girls, manifesting in childhood. Is a X-linked dominant hereditary disease (disorder) true Inferred relationship Some
A rare disorder of heme metabolism characterized by severe cutaneous photosensitivity in affected boys and sometimes in girls, manifesting in childhood. Is a Erythropoietic protoporphyria true Inferred relationship Some
A rare disorder of heme metabolism characterized by severe cutaneous photosensitivity in affected boys and sometimes in girls, manifesting in childhood. Occurrence Congenital true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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