Code System Concept

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Code System Concept

Code System Concept Code	89454001
Code System Concept Name	Shwachman syndrome (disorder)
Code System Preferred Concept Name	Shwachman 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Superseded By Concept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	01/31/2002
SDO Date Created	01/31/2002
SDO Date Revised	01/31/2002
Description
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
148318012	Shwachman syndrome	Active	Synonym	false	false
148320010	Shwachman-Diamond syndrome	Active	Synonym	false	false
148321014	Metaphyseal chondrodysplasia with pancreatic insufficiency AND neutropenia	Active	Synonym	false	false
508513012	Metaphyseal dysplasia with malabsorption and neutropenia	Active	Synonym	false	false
508514018	Metaphyseal chondrodysplasia, Shwachman type	Active	Synonym	false	false
508515017	Schwachman's syndrome	Active	Synonym	false	false
508516016	Schwachman-Diamond syndrome	Active	Synonym	false	false
508517013	Schwachman-Bodian syndrome	Active	Synonym	false	false
508518015	Shwachman's syndrome	Active	Synonym	false	false
508519011	Congenital lipomatosis of pancreas	Active	Synonym	false	false
508520017	Schwachmann-Diamond 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
Immunosuppressed Condition	6 , 5 , 4 , 3 , 2 , 1
Problem Value Set	3 , 2

Parent Concepts

Parent Concepts

Parent/Child (Relationship Type)

Congenital anomaly of pancreas (disorder) {46842007 , SNOMED-CT } Congenital anomaly of the hematopoietic system (disorder) {40888008 , SNOMED-CT } Congenital anomaly of trunk (disorder) {78626001 , SNOMED-CT } Congenital immunodeficiency disease (disorder) {36138009 , SNOMED-CT } Congenital malformation of pancreas (disorder) {235977001 , SNOMED-CT } Congenital neutropenia (disorder) {89655007 , SNOMED-CT } Connective tissue hereditary disorder (disorder) {363045008 , SNOMED-CT } Developmental hereditary disorder (disorder) {363070008 , SNOMED-CT } Digestive system hereditary disorder (disorder) {363080007 , SNOMED-CT } Disorder of digestive system specific to fetus OR newborn (disorder) {42357009 , SNOMED-CT } Hereditary cancer-predisposing syndrome (disorder) {699346009 , SNOMED-CT } Hereditary disorder of endocrine system (disorder) {363104002 , SNOMED-CT } Hereditary disorder of musculoskeletal system (disorder) {363212003 , SNOMED-CT } Hereditary white blood cell disorder (disorder) {414395005 , SNOMED-CT } Metaphyseal chondrodysplasia (disorder) {28681006 , SNOMED-CT } Multisystem disorder (disorder) {281867008 , SNOMED-CT } Multisystem disorder S-T (navigational concept) {312574001 , SNOMED-CT } Neutropenic disorder (disorder) {303011007 , SNOMED-CT } Pancreatic insufficiency (disorder) {37992001 , 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,