389214003: Ghosal hematodiaphyseal dysplasia (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)\Ghosal hematodiaphyseal dysplasia

\Anemia\Congenital anemia\Ghosal hematodiaphyseal dysplasia

\Procedure related finding\Evaluation finding\Imaging finding\Bone densimetry abnormal\Bone density above reference range (finding)\Dysplasia with increased bone density (disorder)\Ghosal hematodiaphyseal dysplasia
\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\Ghosal hematodiaphyseal dysplasia
\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 (finding)\Red blood cell count below reference range\Congenital anemia\Ghosal hematodiaphyseal dysplasia
\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\Ghosal hematodiaphyseal dysplasia
\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\Ghosal hematodiaphyseal dysplasia
\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\Ghosal hematodiaphyseal dysplasia
\Procedure related finding\Evaluation finding\Measurement finding\Measurement finding outside reference range\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Congenital anemia\Ghosal hematodiaphyseal dysplasia
\Procedure related finding\Evaluation finding\Measurement finding\Red blood cell count - finding\Red blood cell count outside reference range (finding)\Red blood cell count below reference range\Congenital anemia\Ghosal hematodiaphyseal dysplasia
\Procedure related finding\Evaluation finding\Hematopoietic system finding\Haematology test outside reference range\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Congenital anemia\Ghosal hematodiaphyseal dysplasia
\Procedure related finding\Evaluation finding\Hematopoietic system finding\Hemoglobin finding\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Congenital anemia\Ghosal hematodiaphyseal dysplasia
\Procedure related finding\Bone density finding (finding)\Bone density above reference range (finding)\Dysplasia with increased bone density (disorder)\Ghosal hematodiaphyseal dysplasia

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

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

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

Descriptions:

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

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Ghosal hematodiaphyseal dysplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Ghosal hematodiaphyseal dysplasia	Is a	Skeletal dysplasia	false	Inferred relationship	Some
Ghosal hematodiaphyseal dysplasia	Is a	Anemia	false	Inferred relationship	Some
Ghosal hematodiaphyseal dysplasia	Is a	Diaphyseal dysplasia	false	Inferred relationship	Some
Ghosal hematodiaphyseal dysplasia	Is a	Congenital anomaly of the hematopoietic system	false	Inferred relationship	Some
Ghosal hematodiaphyseal dysplasia	Occurrence	Congenital	false	Inferred relationship	Some
Ghosal hematodiaphyseal dysplasia	Finding site	Erythrocyte	false	Inferred relationship	Some
Ghosal hematodiaphyseal dysplasia	Finding site	Structure of diaphysis (body structure)	false	Inferred relationship	Some	1
Ghosal hematodiaphyseal dysplasia	Has definitional manifestation	Erythropenia	false	Inferred relationship	Some
Ghosal hematodiaphyseal dysplasia	Finding site	Hematopoietic system structure	false	Inferred relationship	Some
Ghosal hematodiaphyseal dysplasia	Is a	Congenital anemia	true	Inferred relationship	Some
Ghosal hematodiaphyseal dysplasia	Is a	Skeletal dysplasia	false	Inferred relationship	Some
Ghosal hematodiaphyseal dysplasia	Finding site	Bone structure	false	Inferred relationship	Some	1
Ghosal hematodiaphyseal dysplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	2
Ghosal hematodiaphyseal dysplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Ghosal hematodiaphyseal dysplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Ghosal hematodiaphyseal dysplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Ghosal hematodiaphyseal dysplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Ghosal hematodiaphyseal dysplasia	Finding site	Structure of diaphysis (body structure)	false	Inferred relationship	Some	1
Ghosal hematodiaphyseal dysplasia	Occurrence	Congenital	true	Inferred relationship	Some	2
Ghosal hematodiaphyseal dysplasia	Associated morphology	Dysplasia	true	Inferred relationship	Some	2
Ghosal hematodiaphyseal dysplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	2
Ghosal hematodiaphyseal dysplasia	Finding site	Structure of diaphysis (body structure)	true	Inferred relationship	Some	2
Ghosal hematodiaphyseal dysplasia	Has interpretation	Below reference range	true	Inferred relationship	Some	1
Ghosal hematodiaphyseal dysplasia	Has interpretation	Below reference range	true	Inferred relationship	Some	3
Ghosal hematodiaphyseal dysplasia	Interprets	Measurement of total haemoglobin concentration	true	Inferred relationship	Some	1
Ghosal hematodiaphyseal dysplasia	Interprets	Red blood cell count	true	Inferred relationship	Some	3
Ghosal hematodiaphyseal dysplasia	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Ghosal hematodiaphyseal dysplasia	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Some
Ghosal hematodiaphyseal dysplasia	Is a	Dysplasia with increased bone density (disorder)	true	Inferred relationship	Some
Ghosal hematodiaphyseal dysplasia	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Ghosal hematodiaphyseal dysplasia	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Ghosal hematodiaphyseal dysplasia	Is a	Hereditary disorder of cellular element of blood (disorder)	true	Inferred relationship	Some
Ghosal hematodiaphyseal dysplasia	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Ghosal hematodiaphyseal dysplasia	Interprets	Bone density scan	true	Inferred relationship	Some	4
Ghosal hematodiaphyseal dysplasia	Has interpretation	Above reference range	true	Inferred relationship	Some	4

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Description inactivation indicator reference set

GB English

US English

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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