783615009: Erythropoietic uroporphyria associated with myeloid malignancy (disorder)

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\A rare porphyria characterised by a pre-existing myeloid disorder, skin fragility and blistering on the exposed areas, and haemorrhagic bullae typically on the back of the hands. Urine, plasma and faecal porphyrins are increased.
• \Disorder of hematopoietic cell proliferation (disorder)\A rare porphyria characterised by a pre-existing myeloid disorder, skin fragility and blistering on the exposed areas, and haemorrhagic bullae typically on the back of the hands. Urine, plasma and faecal porphyrins are increased.
• \Neoplasm and/or hamartoma (disorder)\Neoplastic disease\...
• \Neoplasm of hematopoietic cell type (disorder)\Malignant neoplasm of lymphoid, hematopoietic and/or related tissue (disorder)\A rare porphyria characterised by a pre-existing myeloid disorder, skin fragility and blistering on the exposed areas, and haemorrhagic bullae typically on the back of the hands. Urine, plasma and faecal porphyrins are increased.
• \Malignant neoplastic disease (disorder)\Malignant neoplasm of lymphoid, hematopoietic and/or related tissue (disorder)\A rare porphyria characterised by a pre-existing myeloid disorder, skin fragility and blistering on the exposed areas, and haemorrhagic bullae typically on the back of the hands. Urine, plasma and faecal porphyrins are increased.
• \Metabolic disease\Disorder of porphyrin metabolism\...
• \Porphyria (disorder)\Uroporphyrinuria\A rare porphyria characterised by a pre-existing myeloid disorder, skin fragility and blistering on the exposed areas, and haemorrhagic bullae typically on the back of the hands. Urine, plasma and faecal porphyrins are increased.
• \Porphyruria\Uroporphyrinuria\A rare porphyria characterised by a pre-existing myeloid disorder, skin fragility and blistering on the exposed areas, and haemorrhagic bullae typically on the back of the hands. Urine, plasma and faecal porphyrins are increased.

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3759509013	A rare porphyria characterised by a pre-existing myeloid disorder, skin fragility and blistering on the exposed areas, and haemorrhagic bullae typically on the back of the hands. Urine, plasma and faecal porphyrins are increased.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3759510015	A rare porphyria characterized by a pre-existing myeloid disorder, skin fragility and blistering on the exposed areas, and hemorrhagic bullae typically on the back of the hands. Urine, plasma and fecal porphyrins are increased.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3759507010	Erythropoietic uroporphyria associated with myeloid malignancy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3759508017	Erythropoietic uroporphyria associated with myeloid malignancy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
6129191000241118	uroporphyrie érythropoïétique associée à une tumeur maligne myéloïde	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6129211000241119	uroporphyrie érythropoïétique associée à un néoplasme malin myéloïde	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3389841001000119	Uroporphyrie, erythropoetische, mit assoziierter myeloischer Neoplasie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

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

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