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Code System Concept

Code System Concept Code	782755007
Code System Concept Name	Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder)
Code System Preferred Concept Name	Primary microcephaly, mild intellectual disability, young-onset diabetes 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Superseded By Concept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	07/31/2019
SDO Date Created	07/31/2019
SDO Date Revised	07/31/2019
Description	A rare genetic syndromic intellectual disability disorder with characteristics of congenital, persistent microcephaly, low birth weight, short stature, childhood-onset seizures, global development delay, mild intellectual disability, and adolescent or young adult-onset diabetes mellitus. Gait ataxia, skeletal abnormalities, dorsocervical fat pad and infantile cirrhosis may also be associated. Brain morphology is typically normal, although delayed myelination and hypoplastic brainstem have been reported.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
3755629013	Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome	Active	Synonym	false	false

Associated Value Sets

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

Parent Concepts

Parent Concepts

Parent/Child (Relationship Type)

Autosomal recessive hereditary disorder (disorder) {85995004 , SNOMED-CT } Congenital anomaly of brain (disorder) {57148006 , SNOMED-CT } Congenital microcephaly (disorder) {1148758003 , SNOMED-CT } Developmental hereditary disorder (disorder) {363070008 , SNOMED-CT } Diabetes mellitus associated with genetic syndrome (disorder) {5969009 , SNOMED-CT } Hereditary disorder of endocrine system (disorder) {363104002 , SNOMED-CT } Hereditary disorder of nervous system (disorder) {363235000 , SNOMED-CT } Microcephalus (disorder) {1829003 , SNOMED-CT } Mild intellectual disability (disorder) {86765009 , SNOMED-CT } Secondary diabetes mellitus (disorder) {8801005 , SNOMED-CT } Short stature disorder (disorder) {237836003 , SNOMED-CT }

Other Relationships

No other relationships present.

Child Concepts

No child concepts present.