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414393003: Hereditary disorder of cellular element of blood (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2005. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
2530854017 Hereditary disorder of cellular element of blood (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
2534319013 Hereditary disorder of cellular element of blood en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
2530854017 Hereditary disorder of cellular element of blood (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
2530854017 Hereditary disorder of cellular element of blood (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
2534319013 Hereditary disorder of cellular element of blood en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
2534319013 Hereditary disorder of cellular element of blood en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
36611000188110 pathologie héréditaire des éléments figurés du sang fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
157731000077113 troubles héréditaires des éléments figurés du sang fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
36611000188110 pathologie héréditaire des éléments figurés du sang fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
157731000077113 troubles héréditaires des éléments figurés du sang fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

311 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hereditary disorder of cellular element of blood Is a Hereditary disorder by system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary disorder of cellular element of blood Is a Disorder of cellular component of blood true Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary disorder of cellular element of blood Has definitional manifestation Finding of cellular component of blood (finding) false Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary disorder of cellular element of blood Finding site Body system structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Hereditary red blood cell disorder (disorder) Is a True Hereditary disorder of cellular element of blood Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary white blood cell disorder (disorder) Is a True Hereditary disorder of cellular element of blood Inferred relationship Existential restriction modifier (core metadata concept)
Inherited platelet disorder Is a False Hereditary disorder of cellular element of blood Inferred relationship Existential restriction modifier (core metadata concept)
Hermansky-Pudlak syndrome Is a False Hereditary disorder of cellular element of blood Inferred relationship Existential restriction modifier (core metadata concept)
Radial aplasia-thrombocytopenia syndrome Is a False Hereditary disorder of cellular element of blood Inferred relationship Existential restriction modifier (core metadata concept)
syndrome d'Epstein Is a False Hereditary disorder of cellular element of blood Inferred relationship Existential restriction modifier (core metadata concept)
Wiskott-Aldrich syndrome Is a False Hereditary disorder of cellular element of blood Inferred relationship Existential restriction modifier (core metadata concept)
Inherited platelet disorder Is a True Hereditary disorder of cellular element of blood Inferred relationship Existential restriction modifier (core metadata concept)
WT limb blood syndrome (disorder) Is a False Hereditary disorder of cellular element of blood Inferred relationship Existential restriction modifier (core metadata concept)
Revesz syndrome (disorder) Is a False Hereditary disorder of cellular element of blood Inferred relationship Existential restriction modifier (core metadata concept)
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness (disorder) Is a True Hereditary disorder of cellular element of blood Inferred relationship Existential restriction modifier (core metadata concept)
Mitochondrial myopathy with sideroblastic anemia syndrome Is a True Hereditary disorder of cellular element of blood Inferred relationship Existential restriction modifier (core metadata concept)
Congenital sideroblastic anemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome (disorder) Is a True Hereditary disorder of cellular element of blood Inferred relationship Existential restriction modifier (core metadata concept)
Aase syndrome Is a True Hereditary disorder of cellular element of blood Inferred relationship Existential restriction modifier (core metadata concept)
Diaphyseal dysplasia with anaemia Is a True Hereditary disorder of cellular element of blood Inferred relationship Existential restriction modifier (core metadata concept)
A rare congenital disorder of glycosylation caused by mutations in the CAD gene and characterized by epileptic encephalopathy, global developmental delay, normocytic anemia and anisopoikilocytosis. Loss of acquired skills in early childhood is present and natural disease course can be lethal in early childhood. Is a True Hereditary disorder of cellular element of blood Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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