Application Version: 4.0.6.10
Content Version: 2024.07.12
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Code System Concept
Code System Concept Code | 718896000 |
Code System Concept Name | X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (disorder) |
Code System Preferred Concept Name | X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction 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Superseded By Concept | |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 | This syndrome combining intellectual deficit, ciliary dysfunction and macrocephalus has been described in several males from one large family. Ciliary dysfunction leads to recurrent pulmonary infections and death in most cases. This syndrome is a recessive X-liked mental retardation and has been associated with mutations in the OFD1 gene, known to be involved in oral-facial-digital syndrome. |
Sequence |
Extended Properties
No extended properties.
Concept Alternate Designations
SDO Designation ID | Concept Designation Description | Status | Designation Type | PHIN Preferred Term Flag | Code Flag |
---|---|---|---|---|---|
3314340010 | X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome | Active | Synonym | false | false |
Parent Concepts
Parent Concepts
Parent/Child (Relationship Type)
Congenital macrocephaly (disorder)
{1145402008
, SNOMED-CT
}
Developmental hereditary disorder (disorder)
{363070008
, SNOMED-CT
}
Intellectual disability (disorder)
{110359009
, SNOMED-CT
}
Macrocephaly (disorder)
{19410003
, SNOMED-CT
}
Mental retardation (disorder)
{91138005
, SNOMED-CT
}
X-linked hereditary disease (disorder)
{128430005
, SNOMED-CT
}
X-linked recessive hereditary disease (disorder)
{1162976004
, 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: