Code System Concept

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Code System Concept

Code System Concept Code	724137002
Code System Concept Name	Macrocephaly, obesity, mental disability, ocular abnormality syndrome (disorder)
Code System Preferred Concept Name	Macrocephaly, obesity, mental disability, ocular abnormality 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Superseded By Concept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	07/31/2017
SDO Date Created	07/31/2017
SDO Date Revised	07/31/2017
Description	A very rare genetic overgrowth/obesity syndrome with characteristics of macrocephaly, obesity, mental (intellectual) disability and ocular abnormalities. Other frequent clinical signs include macrosomia, downslanting palpebral fissures, hypertelorism, broad nasal root, high and broad forehead and delay in bone maturation, in association with normal thyroid function and karyotype.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
3430961013	MOMO syndrome	Active	Synonym	false	false
3430962018	Macrocephaly, obesity, mental disability, ocular abnormality syndrome	Active	Synonym	false	false
3430963011	MOMO (macrocephaly, obesity, mental disability, ocular abnormality) 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 } Congenital anomaly of visual system (disorder) {127329003 , SNOMED-CT } Congenital macrocephaly (disorder) {1145402008 , SNOMED-CT } Developmental hereditary disorder (disorder) {363070008 , SNOMED-CT } Disorder of eye region (disorder) {371409005 , SNOMED-CT } Hereditary disorder of the visual system (disorder) {363343008 , SNOMED-CT } Intellectual disability (disorder) {110359009 , SNOMED-CT } Macrocephaly (disorder) {19410003 , SNOMED-CT } Mental retardation (disorder) {91138005 , SNOMED-CT } Multiple malformation syndrome with early overgrowth (disorder) {48637007 , SNOMED-CT } Obesity (disorder) {414916001 , 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,