Code System Concept

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Code System Concept

Code System Concept Code	770725000
Code System Concept Name	Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly (disorder)
Code System Preferred Concept Name	Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly (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Superseded By Concept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	01/31/2019
SDO Date Created	01/31/2019
SDO Date Revised	01/31/2019
Description	A rare central nervous system malformation syndrome with characteristics of progressive microcephaly with profound motor delay and intellectual disability, associated with hypertonia, spasticity, clonus, and seizures, with brain imaging revealing severe cerebral and cerebellar atrophy, and poor myelination. This phenotype is caused by homozygous mutation in the MED17 gene on chromosome 11.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
3702257012	Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly	Active	Synonym	false	false

Associated Value Sets

Value Set Name	Version(s)
Clinical Finding (NNDSS)	1
Disease	10 , 9 , 8
Problem Value Set	3

Parent Concepts

Parent Concepts

Parent/Child (Relationship Type)

Anomalies of cerebrum (disorder) {204039001 , SNOMED-CT } Autosomal recessive hereditary disorder (disorder) {85995004 , SNOMED-CT } Cerebral atrophy (disorder) {278849000 , SNOMED-CT } Chronic brain syndrome (disorder) {78689005 , SNOMED-CT } Chronic mental disorder (disorder) {128293007 , SNOMED-CT } Congenital anomaly of cerebrum (disorder) {702628006 , SNOMED-CT } Congenital degeneration of nervous system (disorder) {95477007 , SNOMED-CT } Developmental hereditary disorder (disorder) {363070008 , SNOMED-CT } Dysgenesis of the cerebellum (disorder) {253171007 , SNOMED-CT } Hereditary cerebellar atrophy (disorder) {431641000124107 , SNOMED-CT } Hereditary cerebellar degeneration (disorder) {37650008 , SNOMED-CT } Hereditary disorder of nervous system (disorder) {363235000 , SNOMED-CT } Intellectual disability (disorder) {110359009 , SNOMED-CT } Microcephalus (disorder) {1829003 , 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,