Code System Concept

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Code System Concept

Code System Concept Code	1179282009
Code System Concept Name	Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract (disorder)
Code System Preferred Concept Name	Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract (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Superseded By Concept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	09/01/2022
SDO Date Created	10/31/2021
SDO Date Revised	10/31/2021
Description	A rare pervasive developmental disorder with characteristics of microcephaly, profound developmental delay, intellectual disability, bilateral cataracts, severe epilepsy including infantile spasms, hypotonia, irritability, feeding difficulties leading to failure to thrive and stereotypic hand movements. The disease manifests in infancy. Brain imaging reveals delay in myelination and cerebral atrophy.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
4650468015	Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract	Active	Synonym	false	false

Associated Value Sets

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

Parent Concepts

Parent Concepts

Parent/Child (Relationship Type)

Bilateral cataracts (disorder) {95722004 , SNOMED-CT } Epilepsy (disorder) {84757009 , SNOMED-CT } Feeding problem (finding) {78164000 , SNOMED-CT } Finding of eating / feeding / drinking ability (finding) {364777007 , SNOMED-CT } Genetic disease (disorder) {782964007 , SNOMED-CT } Intellectual disability (disorder) {110359009 , SNOMED-CT } Microcephaly (finding) {1148757008 , 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,