Code System Concept

Skip directly to search Skip directly to A to Z list Skip directly to navigation Skip directly to page options Skip directly to site content

Code System Concept

Code System Concept Code	772126000
Code System Concept Name	Poikiloderma with neutropenia (disorder)
Code System Preferred Concept Name	Poikiloderma with neutropenia (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Superseded By Concept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	01/31/2019
SDO Date Created	01/31/2019
SDO Date Revised	01/31/2019
Description	A disorder of the skin and immune system with initial manifestation of a bumpy skin rash usually between the ages of 6 and 12 months, gradually spreading from the arms and legs to the torso and face. At about age 2, the rash fades leaving hyperpigmentation and hypopigmentation and telangiectases, this combination is known as poikiloderma. Palmoplantar keratoderma, calcinosis cutis, skin ulcers, pachyonychia, fragile teeth and low bone density may also be present. Chronic neutropenia is present resulting in recurrent sinus infections and pneumonia, especially in the first few years of life. Caused by mutations in the USB1 gene.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
3717147017	Poikiloderma with neutropenia	Active	Synonym	false	false
3717148010	Poikiloderma with neutropenia Clericuzio type	Active	Synonym	false	false

Associated Value Sets

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

Parent Concepts

Parent Concepts

Parent/Child (Relationship Type)

Autosomal recessive hereditary disorder (disorder) {85995004 , SNOMED-CT } Chronic disease of immune function (disorder) {413834006 , SNOMED-CT } Chronic disease of skin (disorder) {128236002 , SNOMED-CT } Hereditary disorder of the integument (disorder) {363185004 , SNOMED-CT } Hereditary white blood cell disorder (disorder) {414395005 , SNOMED-CT } Neutropenic disorder (disorder) {303011007 , SNOMED-CT } Poikiloderma (disorder) {402685001 , 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,