Code System Concept

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Code System Concept

Code System Concept Code	763320005
Code System Concept Name	Craniofaciofrontodigital syndrome (disorder)
Code System Preferred Concept Name	Craniofaciofrontodigital 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Superseded By Concept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	07/31/2018
SDO Date Created	07/31/2018
SDO Date Revised	07/31/2018
Description	A rare multiple congenital anomalies syndrome with characteristics of mild intellectual disability, short stature, cardiac anomalies, mild dysmorphic features (macrocephaly, prominent forehead, hypertelorism, exophthalmos), cutis laxa, joint hyperlaxity, wrinkled palms and soles and skeletal anomalies (sella turcica, wide ribs and small vertebral bodies).
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
3638541018	Craniofaciofrontodigital syndrome	Active	Synonym	false	false
3638543015	Cantu craniofaciofrontodigital syndrome	Active	Synonym	false	false

Associated Value Sets

Value Set Name	Version(s)
Clinical Finding (NNDSS)	2 , 1
Disease	10 , 9 , 8
Problem Value Set	3

Parent Concepts

Parent Concepts

Parent/Child (Relationship Type)

Congenital anomaly of skin (disorder) {199879009 , SNOMED-CT } Cutis laxa (disorder) {58588007 , SNOMED-CT } Dysostosis of bone of skull (disorder) {128219005 , SNOMED-CT } Intellectual disability (disorder) {110359009 , SNOMED-CT } Metabolic bone disease (disorder) {50279003 , SNOMED-CT } Multiple malformation syndrome with facial defects as major feature (disorder) {65094009 , SNOMED-CT } Musculoskeletal and connective tissue disorder (disorder) {312225001 , SNOMED-CT } Short stature disorder (disorder) {237836003 , 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,