Application Version: 4.0.6.10
Content Version: 2024.07.12
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Code System Concept
Code System Concept Code | 722429003 |
Code System Concept Name | Distal limb deficiency with micrognathia syndrome (disorder) |
Code System Preferred Concept Name | Distal limb deficiency with micrognathia syndrome (disorder) |
Concept Status | Published |
Concept Status Date | 09/01/2024 |
Code System Name | SNOMED-CT |
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Superseded By Concept | |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 | Syndrome with a combination of symmetric severe distal limb reduction deficiencies affecting all four limbs (oligodactyly), microretrognathia, and microstomia with or without cleft palate. It has been reported in four patients; two of them were siblings and had moderate intellectual deficiency. Two non-related subjects also had severe myopia, bilateral conductive hearing loss and a renal change, referred to as oligomeganephronia, or renal hypoplasia. A 10q24 duplication or triplication was detected in all these patients, similar to the duplication detected in an isolated form of split hand foot malformation. |
Sequence |
Extended Properties
No extended properties.
Concept Alternate Designations
SDO Designation ID | Concept Designation Description | Status | Designation Type | PHIN Preferred Term Flag | Code Flag |
---|---|---|---|---|---|
3332024011 | Distal limb deficiency with micrognathia syndrome | Active | Synonym | false | false |
3332025012 | 10q24 microduplication syndrome | Active | Synonym | false | false |
3332026013 | Buttiens Fryns syndrome | Active | Synonym | false | false |
Parent Concepts
Parent Concepts
Parent/Child (Relationship Type)
10q partial trisomy syndrome (disorder)
{73035005
, SNOMED-CT
}
Autosomal recessive hereditary disorder (disorder)
{85995004
, SNOMED-CT
}
Congenital deformity (disorder)
{276655000
, SNOMED-CT
}
Congenital micrognathism (disorder)
{32958008
, SNOMED-CT
}
Connective tissue hereditary disorder (disorder)
{363045008
, SNOMED-CT
}
Developmental hereditary disorder (disorder)
{363070008
, SNOMED-CT
}
Hereditary disorder of musculoskeletal system (disorder)
{363212003
, SNOMED-CT
}
Longitudinal deficiency of limb (disorder)
{67341007
, SNOMED-CT
}
Multiple malformation syndrome with facial-limb defects as major feature (disorder)
{23359005
, 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: