389214003: Ghosal hematodiaphyseal dysplasia (disorder)

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

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

\Hereditary disorder of cellular element of blood\Diaphyseal dysplasia with anaemia

\Anaemia\Congenital anemia\Diaphyseal dysplasia with anaemia

\Procedure related finding\Evaluation finding\Imaging finding (finding)\Bone densimetry abnormal\Bone density above reference range\Dysplasia with increased bone density\Diaphyseal dysplasia with 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\Diaphyseal dysplasia with anaemia
\Procedure related finding\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\Diaphyseal dysplasia with anaemia
\Procedure related finding\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\Diaphyseal dysplasia with anaemia
\Procedure related finding\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding above reference range (finding)\Bone density above reference range\Dysplasia with increased bone density\Diaphyseal dysplasia with anaemia
\Procedure related finding\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Hemoglobin below reference range (finding)\Congenital anemia\Diaphyseal dysplasia with anaemia
\Procedure related finding\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia\Red blood cell count below reference range\Congenital anemia\Diaphyseal dysplasia with anaemia
\Procedure related finding\Evaluation finding\Measurement finding\Measurement finding outside reference range\Haemoglobin level outside reference range\Hemoglobin below reference range (finding)\Congenital anemia\Diaphyseal dysplasia with anaemia
\Procedure related finding\Evaluation finding\Measurement finding\Measurement finding outside reference range\Bone densimetry abnormal\Bone density above reference range\Dysplasia with increased bone density\Diaphyseal dysplasia with anaemia
\Procedure related finding\Evaluation finding\Measurement finding\Red blood cell count - finding\Red blood cell count outside reference range\Red blood cell count below reference range\Congenital anemia\Diaphyseal dysplasia with anaemia
\Procedure related finding\Evaluation finding\Haematopoietic system finding\Haematology test outside reference range\Haemoglobin level outside reference range\Hemoglobin below reference range (finding)\Congenital anemia\Diaphyseal dysplasia with anaemia
\Procedure related finding\Evaluation finding\Haematopoietic system finding\Haemoglobin finding\Haemoglobin level outside reference range\Hemoglobin below reference range (finding)\Congenital anemia\Diaphyseal dysplasia with anaemia
\Procedure related finding\Bone density finding (finding)\Bone density above reference range\Dysplasia with increased bone density\Diaphyseal dysplasia with anaemia

\Musculoskeletal finding (finding)\Bone finding\Bone density finding (finding)\Bone density above reference range\Dysplasia with increased bone density\Diaphyseal dysplasia with anaemia
\Musculoskeletal finding (finding)\Bone finding\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Diaphyseal dysplasia with anaemia
\Musculoskeletal finding (finding)\Bone finding\Disorder of bone (disorder)\Dysplasia with increased bone density\Diaphyseal dysplasia with anaemia
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Diaphyseal dysplasia with anaemia
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Skeletal dysplasia\Dysplasia with increased bone density\Diaphyseal dysplasia with anaemia
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Diaphyseal dysplasia with anaemia
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Dysplasia with increased bone density\Diaphyseal dysplasia with anaemia
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with increased bone density\Diaphyseal dysplasia with anaemia
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Diaphyseal dysplasia with anaemia

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of cellular element of blood\Diaphyseal dysplasia with anaemia
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Diaphyseal dysplasia with anaemia
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Diaphyseal dysplasia with anaemia
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Diaphyseal dysplasia with anaemia
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with increased bone density\Diaphyseal dysplasia with anaemia
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Diaphyseal dysplasia with anaemia
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital anemia\Diaphyseal dysplasia with anaemia
\Disease\Disorder of cellular component of blood\Hereditary disorder of cellular element of blood\Diaphyseal dysplasia with anaemia
\Disease\Disorder of cellular component of blood\Anaemia\Congenital anemia\Diaphyseal dysplasia with anaemia
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of cellular element of blood\Diaphyseal dysplasia with anaemia
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Diaphyseal dysplasia with anaemia
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Diaphyseal dysplasia with anaemia
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Skeletal dysplasia\Dysplasia with increased bone density\Diaphyseal dysplasia with anaemia
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Diaphyseal dysplasia with anaemia
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Dysplasia with increased bone density\Diaphyseal dysplasia with anaemia
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with increased bone density\Diaphyseal dysplasia with anaemia
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Diaphyseal dysplasia with anaemia
\Disease\Developmental disorder (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Diaphyseal dysplasia with anaemia
\Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Diaphyseal dysplasia with anaemia
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with increased bone density\Diaphyseal dysplasia with anaemia
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Diaphyseal dysplasia with anaemia

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2003. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Diaphyseal dysplasia with anaemia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Diaphyseal dysplasia with anaemia	Is a	Skeletal dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Diaphyseal dysplasia with anaemia	Is a	Anaemia	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Diaphyseal dysplasia with anaemia	Is a	Diaphyseal dysplasia (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Diaphyseal dysplasia with anaemia	Is a	Congenital anomaly of the haematopoietic system	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Diaphyseal dysplasia with anaemia	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Diaphyseal dysplasia with anaemia	Finding site	Erythrocyte	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Diaphyseal dysplasia with anaemia	Finding site	Diaphysis structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Diaphyseal dysplasia with anaemia	Has definitional manifestation	érythropénie	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Diaphyseal dysplasia with anaemia	Finding site	Hematopoietic system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Diaphyseal dysplasia with anaemia	Is a	Congenital anemia	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Diaphyseal dysplasia with anaemia	Is a	Skeletal dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Diaphyseal dysplasia with anaemia	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Diaphyseal dysplasia with anaemia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Diaphyseal dysplasia with anaemia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Diaphyseal dysplasia with anaemia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Diaphyseal dysplasia with anaemia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Diaphyseal dysplasia with anaemia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Diaphyseal dysplasia with anaemia	Finding site	Diaphysis structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Diaphyseal dysplasia with anaemia	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Diaphyseal dysplasia with anaemia	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Diaphyseal dysplasia with anaemia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Diaphyseal dysplasia with anaemia	Finding site	Diaphysis structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Diaphyseal dysplasia with anaemia	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Diaphyseal dysplasia with anaemia	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Diaphyseal dysplasia with anaemia	Interprets	Measurement of total haemoglobin concentration	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Diaphyseal dysplasia with anaemia	Interprets	Red blood cell count	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Diaphyseal dysplasia with anaemia	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Diaphyseal dysplasia with anaemia	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Diaphyseal dysplasia with anaemia	Is a	Dysplasia with increased bone density	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Diaphyseal dysplasia with anaemia	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Diaphyseal dysplasia with anaemia	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Diaphyseal dysplasia with anaemia	Is a	Hereditary disorder of cellular element of blood	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Diaphyseal dysplasia with anaemia	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Diaphyseal dysplasia with anaemia	Interprets	Bone density scan	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Diaphyseal dysplasia with anaemia	Has interpretation	Above reference range	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
1476232017	Diaphyseal dysplasia with anaemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1477193011	Diaphyseal dysplasia with anemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3034187018	Ghosal hematodiaphyseal dysplasia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3034336011	Ghosal haematodiaphyseal dysplasia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4592856019	Diaphyseal dysplasia anaemia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4592857011	Diaphyseal dysplasia anemia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4592858018	Ghosal syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4592861017	Ghosal hematodiaphyseal dysplasia (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4592859014	A rare disorder characterised by increased bone density (predominantly diaphyseal) and aregenerative corticosteroid-sensitive anaemia. The exact prevalence is unknown. Associated with mutations in the TBXAS1 gene (which encodes thromboxane synthase). Transmitted as an autosomal recessive trait.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4592860016	A rare disorder characterized by increased bone density (predominantly diaphyseal) and aregenerative corticosteroid-sensitive anemia. The exact prevalence is unknown. Associated with mutations in the TBXAS1 gene (which encodes thromboxane synthase). Transmitted as an autosomal recessive trait.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1463393015	Diaphyseal dysplasia with anemia (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1463393015	Diaphyseal dysplasia with anemia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1476232017	Diaphyseal dysplasia with anaemia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1476232017	Diaphyseal dysplasia with anaemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1477193011	Diaphyseal dysplasia with anemia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1477193011	Diaphyseal dysplasia with anemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3034187018	Ghosal hematodiaphyseal dysplasia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3034187018	Ghosal hematodiaphyseal dysplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3034187018	Ghosal hematodiaphyseal dysplasia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3034336011	Ghosal haematodiaphyseal dysplasia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3034336011	Ghosal haematodiaphyseal dysplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3034336011	Ghosal haematodiaphyseal dysplasia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4592856019	Diaphyseal dysplasia anaemia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4592857011	Diaphyseal dysplasia anemia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4592858018	Ghosal syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4592861017	Ghosal hematodiaphyseal dysplasia (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4592859014	A rare disorder characterised by increased bone density (predominantly diaphyseal) and aregenerative corticosteroid-sensitive anaemia. The exact prevalence is unknown. Associated with mutations in the TBXAS1 gene (which encodes thromboxane synthase). Transmitted as an autosomal recessive trait.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4592860016	A rare disorder characterized by increased bone density (predominantly diaphyseal) and aregenerative corticosteroid-sensitive anemia. The exact prevalence is unknown. Associated with mutations in the TBXAS1 gene (which encodes thromboxane synthase). Transmitted as an autosomal recessive trait.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3433961001000111	Dysplasie, hämatodiaphysäre, Typ Ghosal	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5246821000241117	dysplasie diaphysaire associée à une anémie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5246821000241117	dysplasie diaphysaire associée à une anémie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3433961001000111	Dysplasie, hämatodiaphysäre, Typ Ghosal	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module