234407001: Uridine monophosphate hydrolase deficiency (disorder)

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

\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood (disorder)\Red blood cell disorder\Erythrocyte enzyme deficiency\Uridine monophosphate hydrolase deficiency

\Disease\Disorder of cellular component of blood (disorder)\Red blood cell disorder\Erythrocyte enzyme deficiency\Uridine monophosphate hydrolase deficiency
\Disease\Disorder of body system\Red blood cell disorder\Erythrocyte enzyme deficiency\Uridine monophosphate hydrolase deficiency
\Disease\Metabolic disease\Disorder of purine and pyrimidine metabolism\Uridine monophosphate hydrolase deficiency

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

351202015 Uridine monophosphate hydrolase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
351203013 Pyrimidine-5-nucleotidase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
622721019 Uridine monophosphate hydrolase deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4995441000241119 déficit en uridine-monophosphate-hydrolase fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Uridine monophosphate hydrolase deficiency	Is a	Congenital anomaly of the hematopoietic system	false	Inferred relationship	Some
Uridine monophosphate hydrolase deficiency	Is a	Disorder of purine and pyrimidine metabolism	true	Inferred relationship	Some
Uridine monophosphate hydrolase deficiency	Is a	Hereditary disorder of hematologic system	false	Inferred relationship	Some
Uridine monophosphate hydrolase deficiency	Is a	Erythrocyte enzyme deficiency	true	Inferred relationship	Some
Uridine monophosphate hydrolase deficiency	Occurrence	Congenital	false	Inferred relationship	Some
Uridine monophosphate hydrolase deficiency	Finding site	Erythrocyte	true	Inferred relationship	Some	1
Uridine monophosphate hydrolase deficiency	Finding site	Hematopoietic system structure	false	Inferred relationship	Some
Uridine monophosphate hydrolase deficiency	Finding site	Hematopoietic system structure	false	Inferred relationship	Some
Uridine monophosphate hydrolase deficiency	Has definitional manifestation	Red blood cell finding	false	Inferred relationship	Some

Inbound Relationships

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This concept is not in any reference sets