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765327005: Congenital sideroblastic anemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2018. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
3657922015 Congenital sideroblastic anemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome en Synonym Active Only initial character case insensitive SNOMED CT core module
3657923013 Congenital sideroblastic anaemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome en Synonym Active Only initial character case insensitive SNOMED CT core module
3657924019 Congenital sideroblastic anemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital sideroblastic anemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome Due to Chromosomal disorder true Inferred relationship Existential restriction modifier 4
Congenital sideroblastic anemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome Is a Hereditary disorder of immune system true Inferred relationship Existential restriction modifier
Congenital sideroblastic anemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome Is a Congenital immunodeficiency disease true Inferred relationship Existential restriction modifier
Congenital sideroblastic anemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome Is a Immunodeficiency associated with chromosomal abnormality true Inferred relationship Existential restriction modifier
Congenital sideroblastic anemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome Is a Disorder of immune structure true Inferred relationship Existential restriction modifier
Congenital sideroblastic anemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome Is a Sideroblastic anemia true Inferred relationship Existential restriction modifier
Congenital sideroblastic anemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier
Congenital sideroblastic anemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome Has interpretation Below reference range true Inferred relationship Existential restriction modifier 1
Congenital sideroblastic anemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome Interprets Red blood cell count true Inferred relationship Existential restriction modifier 1
Congenital sideroblastic anemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome Has interpretation Below reference range true Inferred relationship Existential restriction modifier 3
Congenital sideroblastic anemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 2
Congenital sideroblastic anemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome Finding site Structure of immune system true Inferred relationship Existential restriction modifier 2
Congenital sideroblastic anemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome Interprets Measurement of total hemoglobin concentration true Inferred relationship Existential restriction modifier 3
Congenital sideroblastic anemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome Is a Hereditary disorder of cellular element of blood true Inferred relationship Existential restriction modifier
Congenital sideroblastic anemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome Is a Congenital anemia true Inferred relationship Existential restriction modifier
Congenital sideroblastic anemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome Pathological process Abnormal immune process true Inferred relationship Existential restriction modifier 5

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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