Application Version: 4.0.6.10
Content Version: 2024.07.12
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Code System Concept
Code System Concept Code | 715419004 |
Code System Concept Name | Lethal congenital contracture syndrome type 2 (disorder) |
Code System Preferred Concept Name | Lethal congenital contracture syndrome type 2 (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Superseded By Concept | |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 | 07/31/2016 |
SDO Date Created | 07/31/2016 |
SDO Date Revised | 07/31/2016 |
Description | Autosomal recessive disorder originally described in Finnish families. Diagnostic criteria are early foetal hydrops and akinesia, specific neuropathology with degeneration of anterior horn neurons, and extreme skeletal muscle atrophy. The Israeli-Bedouin pedigree is characterised by congenital contractures and additional unique phenotypic abnormalities, suggesting it represents a novel variant of autosomal recessive LCCS. Features distinguishing the novel disorder, LCCS2, from the Finnish type of LCCS included additional craniofacial/ocular findings, lack of hydrops, multiple pterygia, and fractures, as well as a normal duration of pregnancy. The major unique and previously undescribed clinical feature in the Israeli Bedouin disorder is markedly distended urinary bladder. |
Sequence |
Extended Properties
No extended properties.
Concept Alternate Designations
SDO Designation ID | Concept Designation Description | Status | Designation Type | PHIN Preferred Term Flag | Code Flag |
---|---|---|---|---|---|
3302544013 | Lethal congenital contracture syndrome type 2 | Active | Synonym | false | false |
3302545014 | Multiple contracture syndrome Israeli-Bedouin type | Active | Synonym | false | false |
Parent Concepts
Parent Concepts
Parent/Child (Relationship Type)
Akinesia (finding)
{33994004
, SNOMED-CT
}
Arthrogryposis (disorder)
{111246005
, SNOMED-CT
}
Autosomal recessive hereditary disorder (disorder)
{85995004
, SNOMED-CT
}
Congenital anomaly of skeletal muscle (disorder)
{89886004
, SNOMED-CT
}
Hereditary disorder of musculoskeletal system (disorder)
{363212003
, SNOMED-CT
}
Inherited arthrogryposis (disorder)
{28204005
, SNOMED-CT
}
Muscle atrophy (disorder)
{88092000
, 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: