88854002: Congenital hypoplastic anemia (disorder)

SNOMED CT Concept\Clinical finding\...

\Evaluation finding\Measurement finding\Finding of substance level\Finding of protein level\Hemoglobin finding\Hemoglobin level outside reference range\Hemoglobin below reference range\Congenital anemia\Congenital hypoplastic anemia
\Evaluation finding\Measurement finding\Finding of substance level\Finding of protein level\Hemoglobin finding\Hemoglobin level outside reference range\Hemoglobin below reference range\Hypoplastic anemia\Congenital hypoplastic anemia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Red blood cell count outside reference range\Red blood cell count below reference range\Congenital anemia\Congenital hypoplastic anemia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Red blood cell count outside reference range\Red blood cell count below reference range\Hypoplastic anemia\Congenital hypoplastic anemia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Red blood cell count below reference range\Congenital anemia\Congenital hypoplastic anemia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Red blood cell count below reference range\Hypoplastic anemia\Congenital hypoplastic anemia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Hemoglobin below reference range\Congenital anemia\Congenital hypoplastic anemia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Hemoglobin below reference range\Hypoplastic anemia\Congenital hypoplastic anemia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Cytopenia\Red blood cell count below reference range\Congenital anemia\Congenital hypoplastic anemia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Cytopenia\Red blood cell count below reference range\Hypoplastic anemia\Congenital hypoplastic anemia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Hemoglobin level outside reference range\Hemoglobin below reference range\Congenital anemia\Congenital hypoplastic anemia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Hemoglobin level outside reference range\Hemoglobin below reference range\Hypoplastic anemia\Congenital hypoplastic anemia
\Evaluation finding\Measurement finding\Finding of red blood cell count\Red blood cell count outside reference range\Red blood cell count below reference range\Congenital anemia\Congenital hypoplastic anemia
\Evaluation finding\Measurement finding\Finding of red blood cell count\Red blood cell count outside reference range\Red blood cell count below reference range\Hypoplastic anemia\Congenital hypoplastic anemia
\Evaluation finding\Hematopoietic system finding\Hematology test outside reference range\Hemoglobin level outside reference range\Hemoglobin below reference range\Congenital anemia\Congenital hypoplastic anemia
\Evaluation finding\Hematopoietic system finding\Hematology test outside reference range\Hemoglobin level outside reference range\Hemoglobin below reference range\Hypoplastic anemia\Congenital hypoplastic anemia
\Evaluation finding\Hematopoietic system finding\Hemoglobin finding\Hemoglobin level outside reference range\Hemoglobin below reference range\Congenital anemia\Congenital hypoplastic anemia
\Evaluation finding\Hematopoietic system finding\Hemoglobin finding\Hemoglobin level outside reference range\Hemoglobin below reference range\Hypoplastic anemia\Congenital hypoplastic anemia

\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood\Anemia\...

\Congenital anemia\Congenital hypoplastic anemia

\Anemia due to decreased red cell production\Hypoplastic anemia\Congenital hypoplastic anemia

\Disease\Disorder of cellular component of blood\Anemia\Congenital anemia\Congenital hypoplastic anemia
\Disease\Disorder of cellular component of blood\Anemia\Anemia due to decreased red cell production\Hypoplastic anemia\Congenital hypoplastic anemia
\Disease\Disorder of body system\Disorder of hematopoietic structure\Bone marrow disorder\Hypoplastic anemia\Congenital hypoplastic anemia
\Disease\Disorder of body system\Disorder of hematopoietic structure\Congenital anomaly of the hematopoietic system\Congenital hypoplastic anemia
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of the hematopoietic system\Congenital hypoplastic anemia
\Disease\Congenital disease\Congenital anemia\Congenital hypoplastic anemia
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of the hematopoietic system\Congenital hypoplastic anemia

Status: current, Sufficiently defined by necessary conditions definition status. Date: 31-Jul 2021. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

147324016 Chronic constitutional pure red cell aplasia en Synonym Active Entire term case insensitive SNOMED CT core module

147326019 Chronic constitutional pure red cell anemia en Synonym Active Entire term case insensitive SNOMED CT core module

147327011 Congenital erythroid hypoplasia en Synonym Active Entire term case insensitive SNOMED CT core module

147328018 Congenital hypoplastic anemia en Synonym Active Entire term case insensitive SNOMED CT core module

147329014 Familial hypoplastic anemia en Synonym Active Entire term case insensitive SNOMED CT core module

508242017 Congenital red cell aplasia en Synonym Active Entire term case insensitive SNOMED CT core module

508244016 Congenital hypoplastic anaemia en Synonym Active Entire term case insensitive SNOMED CT core module

508246019 Chronic constitutional pure red cell anaemia en Synonym Active Entire term case insensitive SNOMED CT core module

508247011 Familial hypoplastic anaemia en Synonym Active Entire term case insensitive SNOMED CT core module

2820761015 Congenital hypoplastic anemia (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

3664230017 Congenital pure red cell anemia en Synonym Active Entire term case insensitive SNOMED CT core module

3664231018 Erythrogenesis imperfecta en Synonym Active Entire term case insensitive SNOMED CT core module

3664232013 Congenital pure red cell anaemia en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital hypoplastic anemia	Is a	Congenital anemia	true	Inferred relationship	Existential restriction modifier
Congenital hypoplastic anemia	Is a	Hereditary disorder of hematologic system	false	Inferred relationship	Existential restriction modifier
Congenital hypoplastic anemia	Is a	Chronic disease of hematopoietic system	false	Inferred relationship	Existential restriction modifier
Congenital hypoplastic anemia	Is a	Chronic metabolic disorder	false	Inferred relationship	Existential restriction modifier
Congenital hypoplastic anemia	Is a	Disorder of purine and pyrimidine metabolism	false	Inferred relationship	Existential restriction modifier
Congenital hypoplastic anemia	Is a	Pure red cell aplasia	false	Inferred relationship	Existential restriction modifier
Congenital hypoplastic anemia	Interprets	Decreased erythrocyte production	false	Inferred relationship	Existential restriction modifier
Congenital hypoplastic anemia	Course	Chronic	false	Inferred relationship	Existential restriction modifier
Congenital hypoplastic anemia	Finding site	Hematopoietic system structure	false	Inferred relationship	Existential restriction modifier
Congenital hypoplastic anemia	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier
Congenital hypoplastic anemia	Finding site	Erythrocyte	false	Inferred relationship	Existential restriction modifier
Congenital hypoplastic anemia	Finding site	Entire hematological system	false	Inferred relationship	Existential restriction modifier	1
Congenital hypoplastic anemia	Associated morphology	Aplasia	false	Inferred relationship	Existential restriction modifier	1
Congenital hypoplastic anemia	Associated morphology	Hypoplasia	false	Inferred relationship	Existential restriction modifier
Congenital hypoplastic anemia	Has definitional manifestation	Decreased erythrocyte production	false	Inferred relationship	Existential restriction modifier
Congenital hypoplastic anemia	Finding site	Bone marrow structure	false	Inferred relationship	Existential restriction modifier	1
Congenital hypoplastic anemia	Is a	Chronic disease of hematopoietic system	false	Inferred relationship	Existential restriction modifier
Congenital hypoplastic anemia	Has definitional manifestation	Erythropenia	false	Inferred relationship	Existential restriction modifier
Congenital hypoplastic anemia	Is a	Chronic anemia	false	Inferred relationship	Existential restriction modifier
Congenital hypoplastic anemia	Is a	Congenital connective tissue disorder	false	Inferred relationship	Existential restriction modifier
Congenital hypoplastic anemia	Is a	Chronic disease of musculoskeletal system	false	Inferred relationship	Existential restriction modifier
Congenital hypoplastic anemia	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier
Congenital hypoplastic anemia	Clinical course	Chronic	false	Inferred relationship	Existential restriction modifier
Congenital hypoplastic anemia	Associated morphology	Aplasia	false	Inferred relationship	Existential restriction modifier	1
Congenital hypoplastic anemia	Finding site	Bone marrow structure	true	Inferred relationship	Existential restriction modifier	1
Congenital hypoplastic anemia	Is a	Anemia due to decreased red cell production	false	Inferred relationship	Existential restriction modifier
Congenital hypoplastic anemia	Due to	Decreased erythrocyte production	true	Inferred relationship	Existential restriction modifier	4
Congenital hypoplastic anemia	Associated morphology	Aplasia	false	Inferred relationship	Existential restriction modifier	2
Congenital hypoplastic anemia	Finding site	Structure of erythropoietic tissue	false	Inferred relationship	Existential restriction modifier	2
Congenital hypoplastic anemia	Is a	Congenital anomaly of the hematopoietic system	true	Inferred relationship	Existential restriction modifier
Congenital hypoplastic anemia	Is a	Hypoplastic anemia	true	Inferred relationship	Existential restriction modifier
Congenital hypoplastic anemia	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier	3
Congenital hypoplastic anemia	Interprets	Red blood cell count	true	Inferred relationship	Existential restriction modifier	3
Congenital hypoplastic anemia	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier	2
Congenital hypoplastic anemia	Interprets	Measurement of total hemoglobin concentration	true	Inferred relationship	Existential restriction modifier	2
Congenital hypoplastic anemia	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Congenital hypoplastic anemia	Associated morphology	Hypoplasia	true	Inferred relationship	Existential restriction modifier	1
Congenital hypoplastic anemia	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
History of Diamond-Blackfan anemia	Associated finding	False	Congenital hypoplastic anemia	Inferred relationship	Existential restriction modifier	1
History of Diamond-Blackfan anemia	Associated finding	True	Congenital hypoplastic anemia	Inferred relationship	Existential restriction modifier	1
Aase syndrome	Is a	True	Congenital hypoplastic anemia	Inferred relationship	Existential restriction modifier

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
147324016	Chronic constitutional pure red cell aplasia	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
147326019	Chronic constitutional pure red cell anemia	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
147327011	Congenital erythroid hypoplasia	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
147328018	Congenital hypoplastic anemia	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
147329014	Familial hypoplastic anemia	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
508242017	Congenital red cell aplasia	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
508244016	Congenital hypoplastic anaemia	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
508246019	Chronic constitutional pure red cell anaemia	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
508247011	Familial hypoplastic anaemia	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
2820761015	Congenital hypoplastic anemia (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3664230017	Congenital pure red cell anemia	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3664231018	Erythrogenesis imperfecta	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3664232013	Congenital pure red cell anaemia	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module