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SNOMED CT
Last uploaded:
January 16, 2025
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| Id | http://purl.bioontology.org/ontology/SNOMEDCT/723367005
http://purl.bioontology.org/ontology/SNOMEDCT/723367005
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|---|---|
| Preferred Name | MACS syndrome |
| Definitions |
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.
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| Synonyms |
Tall forehead, sparse hair, skin hyperextensibility, scoliosis syndrome
Macrocephaly, alopecia, cutis laxa, scoliosis syndrome (disorder)
Macrocephaly, alopecia, cutis laxa, scoliosis syndrome
MACS (macrocephaly, alopecia, cutis laxa, scoliosis) syndrome
RIN2 deficiency
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | 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. |
|---|---|
| altLabel |
Tall forehead, sparse hair, skin hyperextensibility, scoliosis syndrome
Macrocephaly, alopecia, cutis laxa, scoliosis syndrome (disorder)
Macrocephaly, alopecia, cutis laxa, scoliosis syndrome
MACS (macrocephaly, alopecia, cutis laxa, scoliosis) syndrome
RIN2 deficiency
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| prefLabel | MACS syndrome
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| Type ID |
900000000000003001
900000000000013009
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| CASE SIGNIFICANCE ID |
900000000000448009
900000000000017005
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| notation | 723367005
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| Effective time | 20170731
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| Active | 1
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| Has finding site | |
| Has pathological process | |
| subClassOf | |
| Semantic type UMLS property | |
| type | |
| Subset member | 6011000124106~MAPADVICE~ALWAYS Q84.0
6011000124106~MAPADVICE~ALWAYS Q67.5
447562003~MAPRULE~TRUE
900000000000497000~MAPTARGET~XUv9d
6011000124106~MAPGROUP~1
6011000124106~MAPGROUP~2
900000000000508004~ACCEPTABILITYID~900000000000549004
447562003~MAPGROUP~1
6011000124106~MAPTARGET~Q82.8
447562003~CORRELATIONID~447561005
6011000124106~MAPCATEGORYID~447637006
900000000000509007~ACCEPTABILITYID~900000000000548007
6011000124106~MAPADVICE~ALWAYS Q75.3
900000000000508004~ACCEPTABILITYID~900000000000548007
447562003~MAPTARGET~Q82.8
447562003~MAPPRIORITY~1
6011000124106~MAPTARGET~Q67.5
447562003~MAPCATEGORYID~447637006
447562003~MAPADVICE~ALWAYS Q82.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
6011000124106~MAPTARGET~Q75.3
6011000124106~MAPGROUP~4
6011000124106~MAPPRIORITY~1
6011000124106~MAPADVICE~ALWAYS Q82.8
6011000124106~CORRELATIONID~447561005
6011000124106~MAPRULE~TRUE
6011000124106~MAPTARGET~Q84.0
6011000124106~MAPGROUP~3
900000000000509007~ACCEPTABILITYID~900000000000549004
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| DEFINITION STATUS ID | 900000000000074008
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| tui | T047
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| CTV3ID | XUv9d
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| Occurs in | |
| cui | C2751321
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| Has associated morphology |
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