88854002: Congenital hypoplastic anemia (disorder)

SNOMED CT Concept\Clinical finding\...

\Evaluation finding\Measurement finding\Finding of substance level\Protein level - finding\Haemoglobin finding\Haemoglobin level outside reference range\Haemoglobin low\Congenital anaemia\Congenital hypoplastic anaemia
\Evaluation finding\Measurement finding\Finding of substance level\Protein level - finding\Haemoglobin finding\Haemoglobin level outside reference range\Haemoglobin low\Hypoplastic anaemia\Congenital hypoplastic anaemia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Red blood cell count outside reference range\RBC count low\Congenital anaemia\Congenital hypoplastic anaemia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Red blood cell count outside reference range\RBC count low\Hypoplastic anaemia\Congenital hypoplastic anaemia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Cytopenia\RBC count low\Congenital anaemia\Congenital hypoplastic anaemia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Cytopenia\RBC count low\Hypoplastic anaemia\Congenital hypoplastic anaemia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Haemoglobin low\Congenital anaemia\Congenital hypoplastic anaemia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Haemoglobin low\Hypoplastic anaemia\Congenital hypoplastic anaemia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Cytopenia\RBC count low\Congenital anaemia\Congenital hypoplastic anaemia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Cytopenia\RBC count low\Hypoplastic anaemia\Congenital hypoplastic anaemia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Haemoglobin level outside reference range\Haemoglobin low\Congenital anaemia\Congenital hypoplastic anaemia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Haemoglobin level outside reference range\Haemoglobin low\Hypoplastic anaemia\Congenital hypoplastic anaemia
\Evaluation finding\Measurement finding\Red blood cell count - finding\Red blood cell count outside reference range\RBC count low\Congenital anaemia\Congenital hypoplastic anaemia
\Evaluation finding\Measurement finding\Red blood cell count - finding\Red blood cell count outside reference range\RBC count low\Hypoplastic anaemia\Congenital hypoplastic anaemia
\Evaluation finding\Haematopoietic system finding\Haematology test outside reference range\Haemoglobin level outside reference range\Haemoglobin low\Congenital anaemia\Congenital hypoplastic anaemia
\Evaluation finding\Haematopoietic system finding\Haematology test outside reference range\Haemoglobin level outside reference range\Haemoglobin low\Hypoplastic anaemia\Congenital hypoplastic anaemia
\Evaluation finding\Haematopoietic system finding\Haemoglobin finding\Haemoglobin level outside reference range\Haemoglobin low\Congenital anaemia\Congenital hypoplastic anaemia
\Evaluation finding\Haematopoietic system finding\Haemoglobin finding\Haemoglobin level outside reference range\Haemoglobin low\Hypoplastic anaemia\Congenital hypoplastic anaemia

\Finding of blood, lymphatics and immune system\Blood disease\Anaemia\...

\Congenital anaemia\Congenital hypoplastic anaemia

\Anaemia due to decreased red cell production\Hypoplastic anaemia\Congenital hypoplastic anaemia

\Disease\Blood disease\Anaemia\Congenital anaemia\Congenital hypoplastic anaemia
\Disease\Blood disease\Anaemia\Anaemia due to decreased red cell production\Hypoplastic anaemia\Congenital hypoplastic anaemia
\Disease\Disorder of body system\Disorder of haematopoietic structure\Bone marrow disorder\Hypoplastic anaemia\Congenital hypoplastic anaemia
\Disease\Disorder of body system\Disorder of haematopoietic structure\Congenital anomaly of the haematopoietic system\Congenital hypoplastic anaemia
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of the haematopoietic system\Congenital hypoplastic anaemia
\Disease\Congenital disease\Congenital anaemia\Congenital hypoplastic anaemia
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of the haematopoietic system\Congenital hypoplastic anaemia

Status: current, Defined. Date: 31-Jul 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

147324016 Chronic constitutional pure red cell aplasia en Synonym Active Case insensitive SNOMED CT core
147325015 Diamond-Blackfan anemia en Synonym Inactive Case sensitive SNOMED CT core
147326019 Chronic constitutional pure red cell anemia en Synonym Active Case insensitive SNOMED CT core
147327011 Congenital erythroid hypoplasia en Synonym Active Case insensitive SNOMED CT core
147328018 Congenital hypoplastic anemia en Synonym Active Case insensitive SNOMED CT core
147329014 Familial hypoplastic anemia en Synonym Active Case insensitive SNOMED CT core
2820761015 Congenital hypoplastic anemia (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3664230017 Congenital pure red cell anemia en Synonym Active Case insensitive SNOMED CT core
3664231018 Erythrogenesis imperfecta en Synonym Active Case insensitive SNOMED CT core
3664232013 Congenital pure red cell anaemia en Synonym Active Case insensitive SNOMED CT core
508242017 Congenital red cell aplasia en Synonym Active Case insensitive SNOMED CT core
508243010 Diamond-Blackfan syndrome en Synonym Inactive Case sensitive SNOMED CT core
508244016 Congenital hypoplastic anaemia en Synonym Active Case insensitive SNOMED CT core
508245015 Diamond-Blackfan anaemia en Synonym Inactive Case sensitive SNOMED CT core
508246019 Chronic constitutional pure red cell anaemia en Synonym Active Case insensitive SNOMED CT core
508247011 Familial hypoplastic anaemia en Synonym Active Case insensitive SNOMED CT core
831625013 Chronic constitutional pure red cell aplasia (disorder) en Fully specified name Inactive Initial character case insensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital hypoplastic anaemia	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Congenital hypoplastic anaemia	Has definitional manifestation	Decreased erythrocyte production	false	Inferred relationship	Some
Congenital hypoplastic anaemia	Finding site	Bone marrow structure	false	Inferred relationship	Some	1
Congenital hypoplastic anaemia	Is a	Chronic disease of haematopoietic system	false	Inferred relationship	Some
Congenital hypoplastic anaemia	Has definitional manifestation	Erythropenia	false	Inferred relationship	Some
Congenital hypoplastic anaemia	Is a	Chronic anaemia	false	Inferred relationship	Some
Congenital hypoplastic anaemia	Is a	Congenital anaemia	true	Inferred relationship	Some
Congenital hypoplastic anaemia	Is a	Hereditary disorder of haematologic system	false	Inferred relationship	Some
Congenital hypoplastic anaemia	Is a	Chronic disease of haematopoietic system	false	Inferred relationship	Some
Congenital hypoplastic anaemia	Is a	Chronic metabolic disorder	false	Inferred relationship	Some
Congenital hypoplastic anaemia	Is a	Purine and pyrimidine metabolism disorder	false	Inferred relationship	Some
Congenital hypoplastic anaemia	Is a	Pure red cell aplasia	false	Inferred relationship	Some
Congenital hypoplastic anaemia	Is a	Congenital connective tissue disorder	false	Inferred relationship	Some
Congenital hypoplastic anaemia	Is a	Chronic disease of musculoskeletal system	false	Inferred relationship	Some
Congenital hypoplastic anaemia	Finding site	Bone structure	false	Inferred relationship	Some
Congenital hypoplastic anaemia	Clinical course	Chronic	false	Inferred relationship	Some
Congenital hypoplastic anaemia	Associated morphology	Aplasia	false	Inferred relationship	Some	1
Congenital hypoplastic anaemia	Finding site	Bone marrow structure	true	Inferred relationship	Some	1
Congenital hypoplastic anaemia	Is a	Anaemia due to decreased red cell production	false	Inferred relationship	Some
Congenital hypoplastic anaemia	Due to	Decreased erythrocyte production	true	Inferred relationship	Some	4
Congenital hypoplastic anaemia	Associated morphology	Aplasia	false	Inferred relationship	Some	2
Congenital hypoplastic anaemia	Finding site	Structure of erythropoietic tissue	false	Inferred relationship	Some	2
Congenital hypoplastic anaemia	Interprets	Decreased erythrocyte production	false	Inferred relationship	Some
Congenital hypoplastic anaemia	Course	Chronic	false	Inferred relationship	Some
Congenital hypoplastic anaemia	Finding site	Haematopoietic system structure	false	Inferred relationship	Some
Congenital hypoplastic anaemia	Occurrence	Congenital	false	Inferred relationship	Some
Congenital hypoplastic anaemia	Finding site	Erythrocyte	false	Inferred relationship	Some
Congenital hypoplastic anaemia	Finding site	Entire haematological system	false	Inferred relationship	Some	1
Congenital hypoplastic anaemia	Associated morphology	Aplasia	false	Inferred relationship	Some	1
Congenital hypoplastic anaemia	Associated morphology	Hypoplasia	false	Inferred relationship	Some
Congenital hypoplastic anaemia	Is a	Congenital anomaly of the haematopoietic system	true	Inferred relationship	Some
Congenital hypoplastic anaemia	Is a	Hypoplastic anaemia	true	Inferred relationship	Some
Congenital hypoplastic anaemia	Has interpretation	Below reference range	true	Inferred relationship	Some	3
Congenital hypoplastic anaemia	Interprets	Red blood cell count	true	Inferred relationship	Some	3
Congenital hypoplastic anaemia	Has interpretation	Below reference range	true	Inferred relationship	Some	2
Congenital hypoplastic anaemia	Interprets	Measurement of total haemoglobin concentration	true	Inferred relationship	Some	2
Congenital hypoplastic anaemia	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital hypoplastic anaemia	Associated morphology	Hypoplasia	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Aase syndrome	Is a	True	Congenital hypoplastic anaemia	Inferred relationship	Some
H/O: Diamond-Blackfan anaemia	Associated finding	False	Congenital hypoplastic anaemia	Inferred relationship	Some	1
H/O: Diamond-Blackfan anaemia	Associated finding	True	Congenital hypoplastic anaemia	Inferred relationship	Some	1

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
147324016	Chronic constitutional pure red cell aplasia	en	Synonym	Active	Case insensitive	SNOMED CT core
147325015	Diamond-Blackfan anemia	en	Synonym	Inactive	Case sensitive	SNOMED CT core
147326019	Chronic constitutional pure red cell anemia	en	Synonym	Active	Case insensitive	SNOMED CT core
147327011	Congenital erythroid hypoplasia	en	Synonym	Active	Case insensitive	SNOMED CT core
147328018	Congenital hypoplastic anemia	en	Synonym	Active	Case insensitive	SNOMED CT core
147329014	Familial hypoplastic anemia	en	Synonym	Active	Case insensitive	SNOMED CT core
2820761015	Congenital hypoplastic anemia (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3664230017	Congenital pure red cell anemia	en	Synonym	Active	Case insensitive	SNOMED CT core
3664231018	Erythrogenesis imperfecta	en	Synonym	Active	Case insensitive	SNOMED CT core
3664232013	Congenital pure red cell anaemia	en	Synonym	Active	Case insensitive	SNOMED CT core
508242017	Congenital red cell aplasia	en	Synonym	Active	Case insensitive	SNOMED CT core
508243010	Diamond-Blackfan syndrome	en	Synonym	Inactive	Case sensitive	SNOMED CT core
508244016	Congenital hypoplastic anaemia	en	Synonym	Active	Case insensitive	SNOMED CT core
508245015	Diamond-Blackfan anaemia	en	Synonym	Inactive	Case sensitive	SNOMED CT core
508246019	Chronic constitutional pure red cell anaemia	en	Synonym	Active	Case insensitive	SNOMED CT core
508247011	Familial hypoplastic anaemia	en	Synonym	Active	Case insensitive	SNOMED CT core
831625013	Chronic constitutional pure red cell aplasia (disorder)	en	Fully specified name	Inactive	Initial character case insensitive	SNOMED CT core