Application Version: 4.0.6.10
Content Version: 2024.07.12
Release Notes [PDF288KB]
User Guide [PDF6.08MB]
Code System Update Calendar
Contact Us
Subscribe
Related Links
- PHIN Vocabulary Services
- Quick Links / Mapping Tools
- External Standards Resources
- Message Guides
- Developer's Guide
- PHINVADS FHIR API
Downloads
- RCMT Quick Search
Code System Concept
Code System Concept Code | 726621009 |
Code System Concept Name | Caudal appendage deafness syndrome (disorder) |
Code System Preferred Concept Name | Caudal appendage deafness 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Superseded By Concept | |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 | 07/31/2017 |
SDO Date Created | 07/31/2017 |
SDO Date Revised | 07/31/2017 |
Description | Syndrome with characteristics of caudal appendage, short terminal phalanges, deafness, cryptorchidism, intellectual deficit, short stature and dysmorphism. It has been described in monozygotic twin boys. |
Sequence |
Extended Properties
No extended properties.
Concept Alternate Designations
SDO Designation ID | Concept Designation Description | Status | Designation Type | PHIN Preferred Term Flag | Code Flag |
---|---|---|---|---|---|
3451051017 | Caudal appendage deafness syndrome | Active | Synonym | false | false |
3451052012 | Lynch Lee Murday syndrome | Active | Synonym | false | false |
Parent Concepts
Parent Concepts
Parent/Child (Relationship Type)
Brachyphalangia (disorder)
{38998004
, SNOMED-CT
}
Congenital anomaly of caudal vertebra (disorder)
{92998007
, SNOMED-CT
}
Congenital hearing disorder (disorder)
{95827002
, SNOMED-CT
}
Congenital malposition of testis (disorder)
{93358007
, SNOMED-CT
}
Hearing loss associated with syndrome (disorder)
{232333009
, SNOMED-CT
}
Intellectual disability (disorder)
{110359009
, SNOMED-CT
}
Mental retardation (disorder)
{91138005
, SNOMED-CT
}
Multiple malformation syndrome with limb defect as major feature (disorder)
{41443008
, SNOMED-CT
}
Short stature disorder (disorder)
{237836003
, SNOMED-CT
}
Undescended testicle (disorder)
{204878001
, 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: