Application Version: 4.0.6.10
Content Version: 2024.07.12
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Code System Concept
Code System Concept Code | 1197588008 |
Code System Concept Name | X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder) |
Code System Preferred Concept Name | X-linked microcephaly, growth retardation, prognathism, cryptorchidism 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Superseded By Concept | |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 | 02/28/2022 |
SDO Date Revised | 02/28/2022 |
Description | A rare syndromic intellectual disability with characteristics of hypotonia, microcephaly, severe developmental delay, seizures, intellectual disability, growth retardation, cardiac septal defects, cryptorchidism, hypospadias and dysmorphic features - prominent ears, prognathism, thin upper lip, dental crowding. Caused by mutation in the RPL10 gene on chromosome Xq28. |
Sequence |
Extended Properties
No extended properties.
Concept Alternate Designations
SDO Designation ID | Concept Designation Description | Status | Designation Type | PHIN Preferred Term Flag | Code Flag |
---|---|---|---|---|---|
4697270015 | X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome | Active | Synonym | false | false |
Parent Concepts
Parent Concepts
Parent/Child (Relationship Type)
Congenital microcephaly (disorder)
{1148758003
, SNOMED-CT
}
Congenital prognathism (disorder)
{72855002
, SNOMED-CT
}
Developmental hereditary disorder (disorder)
{363070008
, SNOMED-CT
}
Genitourinary congenital anomalies (disorder)
{287085006
, SNOMED-CT
}
Hereditary disorder of musculoskeletal system (disorder)
{363212003
, SNOMED-CT
}
Intellectual disability (disorder)
{110359009
, SNOMED-CT
}
Multiple malformation syndrome with facial defects as major feature (disorder)
{65094009
, 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: