Code System Concept

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Code System Concept

Code System Concept Code	1332385000
Code System Concept Name	Aplastic anemia, intellectual disability, dwarfism syndrome (disorder)
Code System Preferred Concept Name	Aplastic anemia, intellectual disability, dwarfism syndrome (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Superseded By Concept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	09/01/2024
SDO Date Created	05/01/2024
SDO Date Revised	05/01/2024
Description	A rare constitutional aplastic anemia characterized by aplastic anemia, intellectual disability, short stature, and microcephaly. Skin pigmentation or cafe au lait spots are often present. Majority of the patients present global developmental delay with impaired motor skills, learning disabilities, speech delay whereas some patients also may have behavioral problems including autistic features. Patients often develop premalignant myelodysplastic syndromes or leukemia.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
5353858019	Aplastic anemia, intellectual disability, dwarfism syndrome	Active	Synonym	false	false
5353859010	AMeD syndrome	Active	Synonym	false	false
5353861018	AMeD (aplastic anemia, intellectual disability, dwarfism) syndrome	Active	Synonym	false	false
5353862013	Aplastic anaemia, intellectual disability, dwarfism syndrome	Active	Synonym	false	false
5353865010	AMeD (aplastic anaemia, intellectual disability, dwarfism) syndrome	Active	Synonym	false	false

Associated Value Sets

Value Set Name	Version(s)
Clinical Finding (NNDSS)	2 , 1

Parent Concepts

Parent Concepts

Parent/Child (Relationship Type)

Autosomal recessive hereditary disorder (disorder) {85995004 , SNOMED-CT } Congenital microcephaly (disorder) {1148758003 , SNOMED-CT } Constitutional aplastic anemia (disorder) {28975000 , SNOMED-CT } Developmental hereditary disorder (disorder) {363070008 , SNOMED-CT } Hereditary white blood cell disorder (disorder) {414395005 , SNOMED-CT } Inherited platelet disorder (disorder) {234469001 , SNOMED-CT } Intellectual disability (disorder) {110359009 , SNOMED-CT } Short stature disorder (disorder) {237836003 , 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,