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

\Anemia\Congenital anemia\Congenital sideroblastic anemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome
\Anemia\Sideroblastic anemia\Congenital sideroblastic anemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome

\Procedure related finding\Evaluation finding\...

\Measurement finding\Finding of substance level (finding)\Protein level - finding\Hemoglobin finding\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Congenital anemia\Congenital sideroblastic anemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome
\Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Red blood cell count outside reference range (finding)\Red blood cell count below reference range\Congenital anemia\Congenital sideroblastic anemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome
\Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Red blood cell count below reference range\Congenital anemia\Congenital sideroblastic anemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome
\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Hemoglobin below reference range (finding)\Congenital anemia\Congenital sideroblastic anemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome
\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia\Red blood cell count below reference range\Congenital anemia\Congenital sideroblastic anemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome
\Measurement finding\Measurement finding outside reference range\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Congenital anemia\Congenital sideroblastic anemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome
\Measurement finding\Red blood cell count - finding\Red blood cell count outside reference range (finding)\Red blood cell count below reference range\Congenital anemia\Congenital sideroblastic anemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome

\Hematopoietic system finding\Haematology test outside reference range\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Congenital anemia\Congenital sideroblastic anemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome
\Hematopoietic system finding\Hemoglobin finding\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Congenital anemia\Congenital sideroblastic anemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Congenital sideroblastic anemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of immune system\Congenital sideroblastic anemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Congenital sideroblastic anemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome
\Disease\Disorder of immune function (disorder)\Hereditary disorder of immune system\Congenital sideroblastic anemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome
\Disease\Disorder of immune function (disorder)\Immunodeficiency disorder\Primary immune deficiency disorder\Immunodeficiency associated with chromosomal abnormality\Congenital sideroblastic anemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome
\Disease\Disorder of immune function (disorder)\Immunodeficiency disorder\Congenital immunodeficiency disease\Congenital sideroblastic anemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome
\Disease\Disorder of cellular component of blood (disorder)\Hereditary disorder of cellular element of blood (disorder)\Congenital sideroblastic anemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome
\Disease\Disorder of cellular component of blood (disorder)\Anemia\Congenital anemia\Congenital sideroblastic anemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome
\Disease\Disorder of cellular component of blood (disorder)\Anemia\Sideroblastic anemia\Congenital sideroblastic anemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome
\Disease\Disorder of body system\Disorder of immune structure (disorder)\Congenital sideroblastic anemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Congenital sideroblastic anemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of immune system\Congenital sideroblastic anemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome
\Disease\Congenital disease (disorder)\Congenital anemia\Congenital sideroblastic anemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome
\Disease\Congenital disease (disorder)\Congenital immunodeficiency disease\Congenital sideroblastic anemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome

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

Descriptions:

Id Description Lang Type Status Case? Module

3657922015 Congenital sideroblastic anemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3657923013 Congenital sideroblastic anaemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3657924019 Congenital sideroblastic anemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3657925018 Disease that is 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. Most patients require regular blood transfusion, iron chelation, and intravenous immunoglobulin replacement. Stem cell transplantation has been reported to be successful. Caused by homozygous or compound heterozygous mutation in the TRNT1 gene on chromosome 3p26. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3657926017 Disease that is characterised by severe microcytic anaemia, B-cell lymphopenia, panhypogammaglobulinaemia and variable neurodegeneration. The disease presents in infancy with recurrent febrile illnesses, gastrointestinal disturbances, developmental delay, seizures, ataxia and sensorineural deafness. Most patients require regular blood transfusion, iron chelation, and intravenous immunoglobulin replacement. Stem cell transplantation has been reported to be successful. Caused by homozygous or compound heterozygous mutation in the TRNT1 gene on chromosome 3p26. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

4135141000052116 syndrom med medfödd sideroblastisk anemi, immunbrist med lågt B-cellsantal, periodisk feber och försenad utveckling sv Synonym (core metadata concept) Active Only initial character 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
Congenital sideroblastic anemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome	Due to	Chromosomal disorder (disorder)	true	Inferred relationship	Some	4
Congenital sideroblastic anemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome	Is a	Hereditary disorder of immune system	true	Inferred relationship	Some
Congenital sideroblastic anemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome	Is a	Congenital immunodeficiency disease	true	Inferred relationship	Some
Congenital sideroblastic anemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome	Is a	Immunodeficiency associated with chromosomal abnormality	true	Inferred relationship	Some
Congenital sideroblastic anemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome	Is a	Disorder of immune structure (disorder)	true	Inferred relationship	Some
Congenital sideroblastic anemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome	Is a	Sideroblastic anemia	true	Inferred relationship	Some
Congenital sideroblastic anemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Congenital sideroblastic anemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome	Has interpretation	Below reference range	true	Inferred relationship	Some	1
Congenital sideroblastic anemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome	Interprets	Red blood cell count	true	Inferred relationship	Some	1
Congenital sideroblastic anemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome	Has interpretation	Below reference range	true	Inferred relationship	Some	3
Congenital sideroblastic anemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Congenital sideroblastic anemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome	Finding site	Structure of immune system (body structure)	true	Inferred relationship	Some	2
Congenital sideroblastic anemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome	Interprets	Measurement of total haemoglobin concentration	true	Inferred relationship	Some	3
Congenital sideroblastic anemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome	Is a	Hereditary disorder of cellular element of blood (disorder)	true	Inferred relationship	Some
Congenital sideroblastic anemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome	Is a	Congenital anemia	true	Inferred relationship	Some
Congenital sideroblastic anemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome	Pathological process (attribute)	Abnormal immune process (qualifier value)	true	Inferred relationship	Some	5

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3657922015	Congenital sideroblastic anemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3657923013	Congenital sideroblastic anaemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3657924019	Congenital sideroblastic anemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3657925018	Disease that is 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. Most patients require regular blood transfusion, iron chelation, and intravenous immunoglobulin replacement. Stem cell transplantation has been reported to be successful. Caused by homozygous or compound heterozygous mutation in the TRNT1 gene on chromosome 3p26.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3657926017	Disease that is characterised by severe microcytic anaemia, B-cell lymphopenia, panhypogammaglobulinaemia and variable neurodegeneration. The disease presents in infancy with recurrent febrile illnesses, gastrointestinal disturbances, developmental delay, seizures, ataxia and sensorineural deafness. Most patients require regular blood transfusion, iron chelation, and intravenous immunoglobulin replacement. Stem cell transplantation has been reported to be successful. Caused by homozygous or compound heterozygous mutation in the TRNT1 gene on chromosome 3p26.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4135141000052116	syndrom med medfödd sideroblastisk anemi, immunbrist med lågt B-cellsantal, periodisk feber och försenad utveckling	sv	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)