7425008: Hereditary coproporphyria (disorder)

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

\Viscus structure finding (finding)\Abdominal organ finding\Liver finding\Disease of liver\Hepatic porphyria\Hereditary coproporphyria

\Digestive system finding (finding)\Liver finding\Disease of liver\Hepatic porphyria\Hereditary coproporphyria
\Digestive system finding (finding)\Disease of digestive system (disorder)\Digestive system hereditary disorder\Hereditary coproporphyria
\Digestive system finding (finding)\Disease of digestive system (disorder)\Disorder of digestive organ\Disorder of liver and/or biliary tract\Disease of liver\Hepatic porphyria\Hereditary coproporphyria

\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of liver and/or biliary tract\Disease of liver\Hepatic porphyria\Hereditary coproporphyria
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Liver finding\Disease of liver\Hepatic porphyria\Hereditary coproporphyria
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disease of abdomen\Disorder of liver and/or biliary tract\Disease of liver\Hepatic porphyria\Hereditary coproporphyria
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of liver and/or biliary tract\Disease of liver\Hepatic porphyria\Hereditary coproporphyria

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Digestive system hereditary disorder\Hereditary coproporphyria
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Digestive system hereditary disorder\Hereditary coproporphyria
\Disease\Disorder of body system\Disease of digestive system (disorder)\Digestive system hereditary disorder\Hereditary coproporphyria
\Disease\Disorder of body system\Disease of digestive system (disorder)\Disorder of digestive organ\Disorder of liver and/or biliary tract\Disease of liver\Hepatic porphyria\Hereditary coproporphyria
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of liver and/or biliary tract\Disease of liver\Hepatic porphyria\Hereditary coproporphyria
\Disease\Metabolic disease\Disorder of porphyrin metabolism\Porphyria\Coproporphyria\Hereditary coproporphyria
\Disease\Metabolic disease\Disorder of porphyrin metabolism\Porphyria\Hepatic porphyria\Hereditary coproporphyria

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2020. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hereditary coproporphyria	Is a	Multisystem disorder W-X	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary coproporphyria	Is a	Hereditary disorder of the integument (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary coproporphyria	Is a	Congenital anomaly of trunk	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary coproporphyria	Is a	Cardiovascular system hereditary disorder	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary coproporphyria	Is a	Heart disease	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary coproporphyria	Is a	Hereditary disorder of nervous system (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary coproporphyria	Is a	Porphyria	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary coproporphyria	Is a	Congenital anomaly of integument	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary coproporphyria	Is a	Disorder of the central nervous system (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary coproporphyria	Finding site	Structure of central nervous system	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary coproporphyria	Finding site	Pulmonary valve structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary coproporphyria	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary coproporphyria	Finding site	Structure of skin region (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary coproporphyria	Is a	Disorder of skin (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary coproporphyria	Is a	Pulmonary valve disorder	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary coproporphyria	Is a	trouble multisytémique	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary coproporphyria	Is a	Disorder of porphyrin metabolism	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary coproporphyria	Is a	Site-specific disorder of skin	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary coproporphyria	Is a	Disorder of soft tissue of thoracic cavity	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary coproporphyria	Is a	Congenital heart disease (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary coproporphyria	Is a	Coproporphyria	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary coproporphyria	Is a	Hepatic porphyria	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary coproporphyria	Finding site	Liver structure (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Hereditary coproporphyria	Is a	Digestive system hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Homozygous hereditary coproporphyria	Is a	True	Hereditary coproporphyria	Inferred relationship	Existential restriction modifier (core metadata concept)
Erythropoietic coproporphyria	Is a	True	Hereditary coproporphyria	Inferred relationship	Existential restriction modifier (core metadata concept)

Reference Sets

GB English

US English

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Id	Description	Lang	Type	Status	Case?	Module
13238015	Hereditary coproporphyria	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
13239011	Berger-Goldberg syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
13240013	CPO deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
13241012	CPRO deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
13242017	Porphyria hepatica II	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
502646019	HCP - Hereditary coproporphyria	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
502647011	Coproporphyrinogen oxidase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
502649014	CPO - Coproporphyrinogen oxidase deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
814729016	Hereditary coproporphyria (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
13238015	Hereditary coproporphyria	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
13238015	Hereditary coproporphyria	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
13239011	Berger-Goldberg syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
13240013	CPO deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
13241012	CPRO deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
13242017	Porphyria hepatica II	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
13243010	Watson syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
502646019	HCP - Hereditary coproporphyria	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
502647011	Coproporphyrinogen oxidase deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
502647011	Coproporphyrinogen oxidase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
502648018	Watson's syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
502649014	CPO - Coproporphyrinogen oxidase deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
814729016	Hereditary coproporphyria (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
814729016	Hereditary coproporphyria (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3420291001000119	Koproporphyrie, hereditäre	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
65991000077116	coproporphyrie héréditaire	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
65991000077116	coproporphyrie héréditaire	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3420291001000119	Koproporphyrie, hereditäre	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module