Code System Concept

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Code System Concept

Code System Concept Code	715464002
Code System Concept Name	Microcephalus microcornea syndrome of Seemanova type (disorder)
Code System Preferred Concept Name	Microcephalus microcornea syndrome of Seemanova type (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Superseded By Concept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	07/31/2016
SDO Date Created	07/31/2016
SDO Date Revised	07/31/2016
Description	Extremely rare syndrome with features of microcephaly and brachycephaly, eye anomalies (microphthalmia, microcornea, congenital cataract), hypogenitalism, severe intellectual deficit, growth retardation and progressive spasticity. This syndrome is transmitted as an X-linked trait.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
3302717018	Microcephalus microcornea syndrome of Seemanova type	Active	Synonym	false	false
3302718011	Microcephaly microcornea syndrome Seemanova type	Active	Synonym	false	false
3302719015	Seemanova Lesny 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)

Congenital microcephaly (disorder) {1148758003 , SNOMED-CT } Developmental hereditary disorder (disorder) {363070008 , SNOMED-CT } Hereditary disorder of nervous system (disorder) {363235000 , SNOMED-CT } Hereditary disorder of the visual system (disorder) {363343008 , SNOMED-CT } Microcephalus (disorder) {1829003 , SNOMED-CT } Microcornea (disorder) {26098002 , SNOMED-CT } Multiple system malformation syndrome (disorder) {82354003 , SNOMED-CT } X-linked hereditary disease (disorder) {128430005 , 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,