Code System Concept

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Code System Concept

Code System Concept Code	1303865002
Code System Concept Name	Marfanoid habitus, facial dysmorphism, skeletal abnormality, heart defect syndrome (disorder)
Code System Preferred Concept Name	Marfanoid habitus, facial dysmorphism, skeletal abnormality, heart defect 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Superseded By Concept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	09/01/2024
SDO Date Created	03/01/2024
SDO Date Revised	03/01/2024
Description	A rare multiple congenital anomalies/dysmorphic syndrome without intellectual disability with characteristics of congenital heart disease, skeletal and joint abnormalities (including pectus excavatum, scoliosis and hyper-extensibility or contractures in finger joints), variable dysmorphic facial features (notably long face with narrow maxilla and pointed chin) and failure to thrive. Additional clinical features may include gastrointestinal problems, lipodystrophy-like features, renal hypoplasia, hearing impairment, distinct ocular abnormalities, thin/velvety skin, risk for pneumothorax and genital abnormalities in male.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
5308219013	Marfanoid habitus, facial dysmorphism, skeletal abnormality, heart defect 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)

Congenital anomaly of musculoskeletal system (disorder) {73573004 , SNOMED-CT } Congenital heart disease (disorder) {13213009 , SNOMED-CT } Disorder of skeletal system (disorder) {88230002 , SNOMED-CT } Genetic disease (disorder) {782964007 , SNOMED-CT } Marfanoid physique (finding) {248298009 , 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,