237985009: Pearson's syndrome (disorder)

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

\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood (disorder)\Anemia\Sideroblastic anemia\Pearson's syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Pearson's syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Pearson's syndrome
\Disease\Disorder of cellular component of blood (disorder)\Anemia\Sideroblastic anemia\Pearson's syndrome
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Pearson's syndrome

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

356688011 Pearson's syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

626799011 Pearson's syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

2839083012 Pearson syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Pearson's syndrome	Is a	Disorder of pyruvate metabolism and mitochondrial respiratory chain	true	Inferred relationship	Some
Pearson's syndrome	Is a	Congenital anomaly of the hematopoietic system	false	Inferred relationship	Some
Pearson's syndrome	Is a	Hereditary disorder of hematologic system	false	Inferred relationship	Some
Pearson's syndrome	Is a	Sideroblastic anemia	true	Inferred relationship	Some
Pearson's syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Pearson's syndrome	Finding site	Erythrocyte	false	Inferred relationship	Some
Pearson's syndrome	Finding site	Hematopoietic system structure	false	Inferred relationship	Some
Pearson's syndrome	Has definitional manifestation	Erythropenia	false	Inferred relationship	Some
Pearson's syndrome	Finding site	Hematopoietic system structure	false	Inferred relationship	Some
Pearson's syndrome	Is a	Congenital anemia	false	Inferred relationship	Some
Pearson's syndrome	Is a	Hereditary red blood cell disorder (disorder)	false	Inferred relationship	Some
Pearson's syndrome	Has interpretation	Below reference range	false	Inferred relationship	Some	1
Pearson's syndrome	Interprets	Red blood cell count	false	Inferred relationship	Some	1
Pearson's syndrome	Has interpretation	Below reference range	false	Inferred relationship	Some	2
Pearson's syndrome	Interprets	Measurement of total haemoglobin concentration	false	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets