Application Version: 4.0.6.10
Content Version: 2024.07.12
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Code System Concept
Code System Concept Code | 1169359006 |
Code System Concept Name | Tall stature, intellectual disability, renal anomalies syndrome (disorder) |
Code System Preferred Concept Name | Tall stature, intellectual disability, renal anomalies 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Superseded By Concept | |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 | 09/01/2022 |
SDO Date Created | 09/30/2021 |
SDO Date Revised | 09/30/2021 |
Description | A rare overgrowth syndrome associated with multiple congenital anomalies with characteristics of tall stature, large hands and feet with large thumbs and halluces, spatulate digits, developmental delay and facial dysmorphism. Biallelic loss of function variants in FIBP (11q13.1) are responsible for this phenotype. 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 |
---|---|---|---|---|---|
4607796015 | Tall stature, intellectual disability, renal anomalies syndrome | Active | Synonym | false | false |
4607797012 | Thauvin Robinet Faivre syndrome | Active | Synonym | false | false |
Parent Concepts
Parent Concepts
Parent/Child (Relationship Type)
Autosomal recessive hereditary disorder (disorder)
{85995004
, SNOMED-CT
}
Developmental hereditary disorder (disorder)
{363070008
, SNOMED-CT
}
Disorder of stature (disorder)
{237834000
, SNOMED-CT
}
Intellectual disability (disorder)
{110359009
, SNOMED-CT
}
Multiple malformation syndrome with early overgrowth (disorder)
{48637007
, 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: