Code System Concept

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Code System Concept

Code System Concept Code	717822006
Code System Concept Name	Goldberg Shprintzen megacolon syndrome (disorder)
Code System Preferred Concept Name	Goldberg Shprintzen megacolon 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Superseded By Concept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 multiple malformation syndrome with characteristics of Hirschprung megacolon and microcephaly, hypertelorism, submucous cleft palate, short stature and learning disability. It has been described in about 10 patients, boys and girls. Some of the reported cases also had iris coloboma, hypotonia, and ptosis. Inherited as an autosomal recessive trait and was found to be caused by mutations in KIAA1279 on chromosome 10q21.3-q22.1.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
3323626011	Goldberg Shprintzen megacolon syndrome	Active	Synonym	false	false
3323627019	Megacolon microcephaly 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 } Cleft palate (disorder) {87979003 , SNOMED-CT } Congenital aganglionic megacolon (disorder) {204739008 , SNOMED-CT } Congenital anomaly of brain (disorder) {57148006 , SNOMED-CT } Congenital microcephaly (disorder) {1148758003 , SNOMED-CT } Developmental hereditary disorder (disorder) {363070008 , SNOMED-CT } Digestive system hereditary disorder (disorder) {363080007 , SNOMED-CT } Hereditary disorder of musculoskeletal system (disorder) {363212003 , SNOMED-CT } Inherited autonomic nervous system disorder (disorder) {722997000 , SNOMED-CT } Intellectual disability (disorder) {110359009 , SNOMED-CT } Mental retardation (disorder) {91138005 , SNOMED-CT } Microcephalus (disorder) {1829003 , SNOMED-CT } Multiple malformation syndrome with facial defects as major feature (disorder) {65094009 , 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,