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

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

\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood (disorder)\Hereditary disorder of cellular element of blood (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)
\Disease\Disorder of cellular component of blood (disorder)\Hereditary disorder of cellular element of blood (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\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

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

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hereditary disorder of cellular element of blood (disorder)	Is a	Hereditary disorder by system	true	Inferred relationship	Some
Hereditary disorder of cellular element of blood (disorder)	Is a	Disorder of cellular component of blood (disorder)	true	Inferred relationship	Some
Hereditary disorder of cellular element of blood (disorder)	Has definitional manifestation	Finding of cellular component of blood (finding)	false	Inferred relationship	Some
Hereditary disorder of cellular element of blood (disorder)	Finding site	Body system structure	true	Inferred relationship	Some	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 (disorder)	Inferred relationship	Some
Hereditary white blood cell disorder (disorder)	Is a	True	Hereditary disorder of cellular element of blood (disorder)	Inferred relationship	Some
Inherited platelet disorder	Is a	False	Hereditary disorder of cellular element of blood (disorder)	Inferred relationship	Some
Hermansky-Pudlak syndrome	Is a	False	Hereditary disorder of cellular element of blood (disorder)	Inferred relationship	Some
Radial aplasia-thrombocytopenia syndrome	Is a	False	Hereditary disorder of cellular element of blood (disorder)	Inferred relationship	Some
syndrome d'Epstein	Is a	False	Hereditary disorder of cellular element of blood (disorder)	Inferred relationship	Some
Wiskott-Aldrich syndrome	Is a	False	Hereditary disorder of cellular element of blood (disorder)	Inferred relationship	Some
Inherited platelet disorder	Is a	True	Hereditary disorder of cellular element of blood (disorder)	Inferred relationship	Some
A rare constitutional aplastic anemia disorder characterized by severe hypo/aplastic anemia or pancytopenia associated with skeletal anomalies (such as radial/ulnar defects and hand/digit abnormalities) and an increased risk of leukemia. There have been no further descriptions in the literature since 1995.	Is a	False	Hereditary disorder of cellular element of blood (disorder)	Inferred relationship	Some
Revesz syndrome is a rare severe phenotypic variant of dyskeratosis congenita with an onset in early childhood, characterized by features of DC (e.g. skin hyper/hypopigmentation, nail dystrophy, oral leukoplakia, high risk of bone marrow failure (BMF) and cancer, developmental delay sparse and fine hair) in conjunction with bilateral exudative retinopathy, and intracranial calcifications.	Is a	False	Hereditary disorder of cellular element of blood (disorder)	Inferred relationship	Some
Megaloblastic anaemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness	Is a	True	Hereditary disorder of cellular element of blood (disorder)	Inferred relationship	Some
Mitochondrial myopathy and sideroblastic anemia belongs to the heterogeneous family of metabolic myopathies. It is characterized by progressive exercise intolerance manifesting in childhood, onset of sideroblastic anemia around adolescence, lactic acidemia, and mitochondrial myopathy.	Is a	True	Hereditary disorder of cellular element of blood (disorder)	Inferred relationship	Some
A form of constitutional sideroblastic anemia characterized by severe microcytic anemia, B-cell lymphopenia, panhypogammaglobulinemia and variable neurodegeneration. The disease presents in infancy with recurrent febrile illnesses, gastrointestinal disturbances, developmental delay, seizures, ataxia and sensorineural deafness.	Is a	True	Hereditary disorder of cellular element of blood (disorder)	Inferred relationship	Some
Aase syndrome	Is a	True	Hereditary disorder of cellular element of blood (disorder)	Inferred relationship	Some
A rare disorder characterised by increased bone density (predominantly diaphyseal) and aregenerative corticosteroid-sensitive anaemia. The exact prevalence is unknown. Associated with mutations in the TBXAS1 gene (which encodes thromboxane synthase). Transmitted as an autosomal recessive trait.	Is a	True	Hereditary disorder of cellular element of blood (disorder)	Inferred relationship	Some
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 (disorder)	Inferred relationship	Some
A rare genetic neurological disorder characterized by early-onset progressive leukoencephalopathy, severe developmental delay, early-onset or congenital deafness (only few cases reported without hearing loss), and visual impairment. All patients manifest calcifications in brain and spinal cord. Cognitive impairment, seizures, hypotonia, spastic tetraplegia or quadriplegia are observed in the majority of the patients. Variable features may include microcephaly and anemia.	Is a	True	Hereditary disorder of cellular element of blood (disorder)	Inferred relationship	Some

Reference Sets

Description inactivation indicator reference set