Code System Concept

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Code System Concept

Code System Concept Code	389214003
Code System Concept Name	Ghosal hematodiaphyseal dysplasia (disorder)
Code System Preferred Concept Name	Ghosal hematodiaphyseal dysplasia (disorder)
Concept Status	Published
Concept Status Date	09/01/2024
Code System Name	SNOMED-CT

Concept Relationships
Concept Details

Concept Details

Code System Code	PH_SNOMED-CT
Code System OID	2.16.840.1.113883.6.96
HL7 Table 0396 Code	SCT
Superseded By Concept
SDO Concept Status	Active
SDO Concept Status Date	01/31/2003
SDO Date Created	01/31/2003
SDO Date Revised	01/31/2003
Description	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.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
1476232017	Diaphyseal dysplasia with anaemia	Active	Synonym	false	false
1477193011	Diaphyseal dysplasia with anemia	Active	Synonym	false	false
3034187018	Ghosal hematodiaphyseal dysplasia	Active	Synonym	false	false
3034336011	Ghosal haematodiaphyseal dysplasia	Active	Synonym	false	false
4592856019	Diaphyseal dysplasia anaemia syndrome	Active	Synonym	false	false
4592857011	Diaphyseal dysplasia anemia syndrome	Active	Synonym	false	false
4592858018	Ghosal syndrome	Active	Synonym	false	false

Associated Value Sets

Value Set Name	Version(s)
Clinical Finding (NNDSS)	2 , 1
Disease	10 , 9 , 8 , 7 , 6 , 5 , 4 , 3 , 2 , 1
Problem Value Set	3 , 2

Parent Concepts

Parent Concepts

Parent/Child (Relationship Type)

Anemia (disorder) {271737000 , SNOMED-CT } Autosomal recessive hereditary disorder (disorder) {85995004 , SNOMED-CT } Congenital anemia (disorder) {63565007 , SNOMED-CT } Congenital anomaly of skeletal bone (disorder) {8447006 , SNOMED-CT } Congenital anomaly of the hematopoietic system (disorder) {40888008 , SNOMED-CT } Congenital skeletal dysplasia (disorder) {105986008 , SNOMED-CT } Developmental hereditary disorder (disorder) {363070008 , SNOMED-CT } Diaphyseal dysplasia (disorder) {34643004 , SNOMED-CT } Dysplasia with increased bone density (disorder) {254120004 , SNOMED-CT } Hereditary disorder of cellular element of blood (disorder) {414393003 , SNOMED-CT } Hereditary disorder of musculoskeletal system (disorder) {363212003 , SNOMED-CT }

Other Relationships

No other relationships present.

Child Concepts

No child concepts present.

Page last reviewed:June 20, 2024
Page last updated:June 20, 2024
Content source:
- Centers for Disease Control and Prevention,