Code System Concept

Skip directly to search Skip directly to A to Z list Skip directly to navigation Skip directly to page options Skip directly to site content

Code System Concept

Code System Concept Code	1187304005
Code System Concept Name	Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome (disorder)
Code System Preferred Concept Name	Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax 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Superseded By Concept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	09/01/2022
SDO Date Created	01/31/2022
SDO Date Revised	01/31/2022
Description	A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability, with characteristics of macrocephaly, intellectual disability, seizures, dysmorphic facial features (including tall forehead, downslanting palpebral fissures, hypertelorism, depressed nasal bridge and macrostomia), megalencephaly and small thorax. Other reported features are umbilical hernia, muscular hypotonia, global developmental delay, autistic behavior and cafe-au-lait spots among others.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
4673264017	MINDS syndrome	Active	Synonym	false	false
4673265016	Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome	Active	Synonym	false	false
4673267012	Smith Kingsmore syndrome	Active	Synonym	false	false
4673268019	MINDS (macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax) syndrome	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)

Autosomal dominant hereditary disorder (disorder) {11164009 , SNOMED-CT } Congenital anomaly of thorax (disorder) {363035006 , SNOMED-CT } Congenital macrocephaly (disorder) {1145402008 , SNOMED-CT } Developmental hereditary disorder (disorder) {363070008 , SNOMED-CT } Hereditary disorder of nervous system (disorder) {363235000 , SNOMED-CT } Intellectual disability (disorder) {110359009 , SNOMED-CT } Macroencephaly (disorder) {9740002 , SNOMED-CT } Multiple malformation syndrome with facial defects as major feature (disorder) {65094009 , SNOMED-CT } Seizure disorder (disorder) {128613002 , 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,