88854002: Congenital hypoplastic anemia (disorder)

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

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

\Congenital anemia\Congenital hypoplastic anaemia

\Anemia due to decreased red cell production (disorder)\Hypoplastic anemia\Congenital hypoplastic anaemia

\Procedure related finding\Evaluation finding\...

\Measurement finding\Finding of substance level (finding)\Finding of protein level (finding)\Haemoglobin finding\Haemoglobin level outside reference range\Hemoglobin below reference range (finding)\Congenital anemia\Congenital hypoplastic anaemia
\Measurement finding\Finding of substance level (finding)\Finding of protein level (finding)\Haemoglobin finding\Haemoglobin level outside reference range\Hemoglobin below reference range (finding)\Hypoplastic anemia\Congenital hypoplastic anaemia
\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 anaemia
\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 anaemia
\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 anaemia
\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 anaemia
\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Hemoglobin below reference range (finding)\Congenital anemia\Congenital hypoplastic anaemia
\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Hemoglobin below reference range (finding)\Hypoplastic anemia\Congenital hypoplastic anaemia
\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia\Red blood cell count below reference range\Congenital anemia\Congenital hypoplastic anaemia
\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia\Red blood cell count below reference range\Hypoplastic anemia\Congenital hypoplastic anaemia
\Measurement finding\Measurement finding outside reference range\Haemoglobin level outside reference range\Hemoglobin below reference range (finding)\Congenital anemia\Congenital hypoplastic anaemia
\Measurement finding\Measurement finding outside reference range\Haemoglobin level outside reference range\Hemoglobin below reference range (finding)\Hypoplastic anemia\Congenital hypoplastic anaemia
\Measurement finding\Red blood cell count - finding\Red blood cell count outside reference range\Red blood cell count below reference range\Congenital anemia\Congenital hypoplastic anaemia
\Measurement finding\Red blood cell count - finding\Red blood cell count outside reference range\Red blood cell count below reference range\Hypoplastic anemia\Congenital hypoplastic anaemia

\Haematopoietic system finding\Haematology test outside reference range\Haemoglobin level outside reference range\Hemoglobin below reference range (finding)\Congenital anemia\Congenital hypoplastic anaemia
\Haematopoietic system finding\Haematology test outside reference range\Haemoglobin level outside reference range\Hemoglobin below reference range (finding)\Hypoplastic anemia\Congenital hypoplastic anaemia
\Haematopoietic system finding\Haemoglobin finding\Haemoglobin level outside reference range\Hemoglobin below reference range (finding)\Congenital anemia\Congenital hypoplastic anaemia
\Haematopoietic system finding\Haemoglobin finding\Haemoglobin level outside reference range\Hemoglobin below reference range (finding)\Hypoplastic anemia\Congenital hypoplastic anaemia

\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of the haematopoietic system\Congenital hypoplastic anaemia
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital anemia\Congenital hypoplastic anaemia
\Disease\Disorder of cellular component of blood\Anaemia\Congenital anemia\Congenital hypoplastic anaemia
\Disease\Disorder of cellular component of blood\Anaemia\Anemia due to decreased red cell production (disorder)\Hypoplastic anemia\Congenital hypoplastic anaemia
\Disease\Disorder of body system\Disorder of hematopoietic structure (disorder)\Bone marrow disorder\Hypoplastic anemia\Congenital hypoplastic anaemia
\Disease\Disorder of body system\Disorder of hematopoietic structure (disorder)\Congenital anomaly of the haematopoietic system\Congenital hypoplastic anaemia
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of the haematopoietic system\Congenital hypoplastic anaemia

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

Descriptions:

Expanded Value Set

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

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

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 (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
147326019	Chronic constitutional pure red cell anemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
147327011	Congenital erythroid hypoplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
147328018	Congenital hypoplastic anemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
147329014	Familial hypoplastic anemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
508242017	Congenital red cell aplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
508244016	Congenital hypoplastic anaemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
508246019	Chronic constitutional pure red cell anaemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
508247011	Familial hypoplastic anaemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2820761015	Congenital hypoplastic anemia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3664230017	Congenital pure red cell anemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3664231018	Erythrogenesis imperfecta	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3664232013	Congenital pure red cell anaemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
147324016	Chronic constitutional pure red cell aplasia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
147324016	Chronic constitutional pure red cell aplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
147325015	Diamond-Blackfan anemia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
147326019	Chronic constitutional pure red cell anemia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
147326019	Chronic constitutional pure red cell anemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
147327011	Congenital erythroid hypoplasia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
147327011	Congenital erythroid hypoplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
147328018	Congenital hypoplastic anemia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
147328018	Congenital hypoplastic anemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
147329014	Familial hypoplastic anemia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
147329014	Familial hypoplastic anemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
508242017	Congenital red cell aplasia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
508242017	Congenital red cell aplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
508243010	Diamond-Blackfan syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
508244016	Congenital hypoplastic anaemia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
508244016	Congenital hypoplastic anaemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
508245015	Diamond-Blackfan anaemia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
508246019	Chronic constitutional pure red cell anaemia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
508246019	Chronic constitutional pure red cell anaemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
508247011	Familial hypoplastic anaemia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
508247011	Familial hypoplastic anaemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
831625013	Chronic constitutional pure red cell aplasia (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2820761015	Congenital hypoplastic anemia (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2820761015	Congenital hypoplastic anemia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3664230017	Congenital pure red cell anemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3664231018	Erythrogenesis imperfecta	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3664232013	Congenital pure red cell anaemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4680731000241113	aplasie chronique constitutionnelle isolée de la lignée rouge	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
4680731000241113	aplasie chronique constitutionnelle isolée de la lignée rouge	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module