Code System Concept

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Code System Concept

Code System Concept Code	720401009
Code System Concept Name	Cystic fibrosis with gastritis and megaloblastic anemia syndrome (disorder)
Code System Preferred Concept Name	Cystic fibrosis with gastritis and megaloblastic anemia 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Superseded By Concept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	01/31/2017
SDO Date Created	01/31/2017
SDO Date Revised	01/31/2017
Description	A rare genetic disease reported in two siblings of consanguineous Arab parents with characteristics of cystic fibrosis, gastritis associated with Helicobacter pylori, folate deficiency megaloblastic anaemia, and intellectual disability. There have been no further descriptions in the literature since 1991.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
3320636019	Cystic fibrosis with gastritis and megaloblastic anemia syndrome	Active	Synonym	false	false
3322185018	Cystic fibrosis with gastritis and megaloblastic anaemia syndrome	Active	Synonym	false	false
3322186017	Lubani Al-Saleh Teebi syndrome	Active	Synonym	false	false

Associated Value Sets

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

Parent Concepts

Parent Concepts

Parent/Child (Relationship Type)

Autosomal recessive hereditary disorder (disorder) {85995004 , SNOMED-CT } Cystic fibrosis (disorder) {190905008 , SNOMED-CT } Developmental hereditary disorder (disorder) {363070008 , SNOMED-CT } Digestive system hereditary disorder (disorder) {363080007 , SNOMED-CT } Gastritis caused by Helicobacter pylori (disorder) {708164002 , SNOMED-CT } Gastrointestinal complication (disorder) {24813008 , SNOMED-CT } Helicobacter pylori gastrointestinal tract infection (disorder) {307759003 , SNOMED-CT } Hereditary red blood cell disorder (disorder) {414394009 , SNOMED-CT } Intellectual disability (disorder) {110359009 , SNOMED-CT } Megaloblastic anemia due to folate deficiency (disorder) {85649008 , SNOMED-CT } Mental retardation (disorder) {91138005 , SNOMED-CT } Respiratory complication (disorder) {62907002 , 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,