Code System Concept

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Code System Concept

Code System Concept Code	716108004
Code System Concept Name	Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder)
Code System Preferred Concept Name	Macrocephaly with spastic paraplegia and dysmorphism 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Superseded By Concept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	07/31/2016
SDO Date Created	07/31/2016
SDO Date Revised	07/31/2016
Description	A rare syndrome with features of multiple congenital anomalies with macrocephaly (of post-natal onset), large anterior fontanelle, progressive complex spastic paraplegia, coarse facial features (broad and high forehead, deeply set eyes, short philtrum with thin upper lip, large mouth and prominent incisors), seizures, and intellectual deficit of varying severity. Inheritance appears to be autosomal recessive.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
3304763011	Macrocephaly with spastic paraplegia and dysmorphism syndrome	Active	Synonym	false	false
3304764017	Fryns macrocephaly	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 } Autosomal recessive hereditary spastic paraplegia (disorder) {1187279003 , SNOMED-CT } Congenital macrocephaly (disorder) {1145402008 , SNOMED-CT } Developmental hereditary disorder (disorder) {363070008 , SNOMED-CT } Hereditary spastic paraplegia (disorder) {39912006 , SNOMED-CT } Macrocephaly (disorder) {19410003 , SNOMED-CT } Multiple malformation syndrome with facial defects as major feature (disorder) {65094009 , 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,