267454002: Acatalasemia (disorder)

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

\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood (disorder)\White blood cell disorder\Non-malignant white cell disorder\Acatalasemia

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of peroxisomal function\Loss of single peroxisomal function\Acatalasemia
\Disease\Disorder of immune function (disorder)\White blood cell disorder\Non-malignant white cell disorder\Acatalasemia
\Disease\Disorder of cellular component of blood (disorder)\White blood cell disorder\Non-malignant white cell disorder\Acatalasemia
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of peroxisomal function\Loss of single peroxisomal function\Acatalasemia
\Disease\Congenital disease (disorder)\Inborn error of metabolism\Disorder of peroxisomal function\Loss of single peroxisomal function\Acatalasemia

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

398894016 Acatalasemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

398895015 Catalase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

398896019 Acatalasaemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

660072011 Acatalasemia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3010281013 Takahara disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3011706011 Acatalasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

372131000052116 akatalasemi sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Acatalasemia	Is a	Loss of single peroxisomal function	true	Inferred relationship	Some
Acatalasemia	Is a	Congenital anomaly of the hematopoietic system	false	Inferred relationship	Some
Acatalasemia	Is a	Hereditary disorder of hematologic system	false	Inferred relationship	Some
Acatalasemia	Is a	Non-malignant white cell disorder	true	Inferred relationship	Some
Acatalasemia	Finding site	Leukocyte	false	Inferred relationship	Some
Acatalasemia	Finding site	Hematopoietic system structure	false	Inferred relationship	Some
Acatalasemia	Occurrence	Congenital	true	Inferred relationship	Some	1
Acatalasemia	Is a	Hereditary disorder of immune system	false	Inferred relationship	Some
Acatalasemia	Finding site	Structure of immune system (body structure)	false	Inferred relationship	Some
Acatalasemia	Finding site	Hematopoietic system structure	false	Inferred relationship	Some
Acatalasemia	Associated morphology	White blood cell abnormality (morphologic abnormality)	false	Inferred relationship	Some
Acatalasemia	Has definitional manifestation	White blood cell finding	false	Inferred relationship	Some
Acatalasemia	Has definitional manifestation	Immune system finding	false	Inferred relationship	Some
Acatalasemia	Has definitional manifestation	Immune system finding	false	Inferred relationship	Some
Acatalasemia	Pathological process (attribute)	Abnormal immune process (qualifier value)	true	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
akatalasemi	Is a	False	Acatalasemia	Inferred relationship	Some

This concept is not in any reference sets