Application Version: 4.0.6.9
Content Version: 2024.01.20
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User Guide [PDF6.08MB]
Code System Update Calendar [PDF161KB]
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Code System Concept
Code System Concept Code | 723367005 |
Code System Concept Name | Macrocephaly, alopecia, cutis laxa, scoliosis syndrome (disorder) |
Code System Preferred Concept Name | Macrocephaly, alopecia, cutis laxa, scoliosis syndrome (disorder) |
Concept Status | Published |
Concept Status Date | 03/01/2024 |
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Superseded By Concept | |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 | A very rare inherited connective tissue disorder with characteristics of macrocephaly, sparse scalp hair, soft redundant and hyperextensible skin, joint hypermobility, and scoliosis. Patients have progressive facial coarsening with downslanted palpebral fissures, upper eyelid fullness/infraorbital folds, thick/everted vermillion, gingival overgrowth and abnormal position of the teeth. Rare manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly have also been reported. Caused by homozygous mutation in the RIN2 gene on chromosome 20p11. |
Sequence |
Extended Properties
No extended properties.
Concept Alternate Designations
SDO Designation ID | Concept Designation Description | Status | Designation Type | PHIN Preferred Term Flag | Code Flag |
---|---|---|---|---|---|
3424261017 | Macrocephaly, alopecia, cutis laxa, scoliosis syndrome | Active | Synonym | false | false |
3424262012 | MACS syndrome | Active | Synonym | false | false |
3424263019 | MACS (macrocephaly, alopecia, cutis laxa, scoliosis) syndrome | Active | Synonym | false | false |
3424264013 | RIN2 deficiency | Active | Synonym | false | false |
3424265014 | Tall forehead, sparse hair, skin hyperextensibility, scoliosis syndrome | Active | Synonym | false | false |
Parent Concepts
No parent concepts present.
|
Other Relationships
No other relationships present.
|
Child Concepts
No child concepts present.
|
Application Version: 4.0.6.9
Content Version: 2024.01.20
Release Notes [PDF285KB]
User Guide [PDF6.08MB]
Code System Update Calendar [PDF161KB]
Contact Us
Subscribe
Related Links
- PHIN Vocabulary Services
- Quick Links / Mapping Tools
- External Standards Resources
- Message Guides
- Developer's Guide
Downloads
- Page last reviewed:December 5, 2018
- Page last updated:December 5, 2018
- Content source: