PHIN VADS

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Code System Concept

Code System Concept Code	720954000
Code System Concept Name	Filippi syndrome (disorder)
Code System Preferred Concept Name	Filippi syndrome (disorder)
Concept Status	Published
Concept Status Date	09/01/2025
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Superseded By Concept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	01/31/2017
SDO Date Created	01/31/2017
SDO Date Revised	01/31/2017
Description	Filippi syndrome is characterised by microcephaly, cutaneous syndactyly of the fingers and toes, intellectual deficit, growth retardation and a characteristic facies (high and broad nasal bridge, thin alae nasi, micrognathia and a high frontal hairline). So far, less than 25 cases have been reported. Cryptorchidism, polydactyly, and teeth and hair anomalies may also be present. Transmission is 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
3322630016	Filippi syndrome	Active	Synonym	false	false
3322630016	Filippi syndrome	Active	Synonym	false	false
3322631017	Type 1 syndactyly, microcephaly, intellectual disability syndrome	Active	Synonym	false	false
3322631017	Type 1 syndactyly, microcephaly, intellectual disability syndrome	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 No parent concepts present.	Other Relationships No other relationships present.
Child Concepts No child concepts present.