238053006: homozygote erytropoëtische protoporfyrie (aandoening)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Genetic disease\Hereditary disease\...

\Hereditary metabolic disease\Inherited disorder of porphyrin metabolism (disorder)\Congenital porphyria\Erythropoietic protoporphyria\Homozygous erythropoietic protoporphyria
\Hereditary metabolic disease\Inborn error of metabolism\Erythropoietic protoporphyria\Homozygous erythropoietic protoporphyria

\Autosomal hereditary disorder\Erythropoietic protoporphyria\Homozygous erythropoietic protoporphyria

\Disorder of foetus and/or newborn\Congenital disease (disorder)\...

\Congenital porphyria\Erythropoietic protoporphyria\Homozygous erythropoietic protoporphyria

\Inborn error of metabolism\Erythropoietic protoporphyria\Homozygous erythropoietic protoporphyria

\Metabolic disease\Hereditary metabolic disease\Inherited disorder of porphyrin metabolism (disorder)\Congenital porphyria\Erythropoietic protoporphyria\Homozygous erythropoietic protoporphyria
\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Erythropoietic protoporphyria\Homozygous erythropoietic protoporphyria
\Metabolic disease\Enzymopathy\Ferrochelatase deficiency\Erythropoietic protoporphyria\Homozygous erythropoietic protoporphyria
\Metabolic disease\Disorder of porphyrin metabolism\Porphyria (disorder)\Congenital porphyria\Erythropoietic protoporphyria\Homozygous erythropoietic protoporphyria
\Metabolic disease\Disorder of porphyrin metabolism\Inherited disorder of porphyrin metabolism (disorder)\Congenital porphyria\Erythropoietic protoporphyria\Homozygous erythropoietic protoporphyria
\Metabolic disease\Disorder of porphyrin metabolism\Ferrochelatase deficiency\Erythropoietic protoporphyria\Homozygous erythropoietic protoporphyria

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

356833014 Homozygous erythropoietic protoporphyria en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

626882017 Homozygous erythropoietic protoporphyria (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

6033511000146113 homozygote erytropoëtische protoporfyrie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6033521000146115 homozygote erytropoëtische protoporfyrie (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7525661000146113 homozygote EPP nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Homozygous erythropoietic protoporphyria	Is a	Erythropoietic protoporphyria	true	Inferred relationship	Some
Homozygous erythropoietic protoporphyria	Occurrence	Congenital	true	Inferred relationship	Some	1
Homozygous erythropoietic protoporphyria	Finding site	Body system structure	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets