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SNOMED CT, US Edition
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/SNOMEDCT/76520005
http://purl.bioontology.org/ontology/SNOMEDCT/76520005
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|---|---|
| Preferred Name | Robinow syndrome |
| Definitions |
Robinow syndrome (RS) is a rare genetic syndrome characterised by limb shortening and abnormalities of the head, face and external genitalia.
A rare genetic syndrome with characteristics of limb shortening and abnormalities of the head, face and external genitalia. Two forms of the syndrome with different patterns of inheritance and variable frequency of clinical signs have been described: a milder autosomal dominant form and a more severe autosomal recessive form. The syndrome has a wide clinical spectrum. Transmission is autosomal dominant or recessive.
Robinow syndrome (RS) is a rare genetic syndrome characterized by limb shortening and abnormalities of the head, face and external genitalia.
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| Synonyms |
Foetal face syndrome
Robinow Silverman Smith syndrome
Acral dysostosis with facial and genital abnormalities
Fetal face syndrome
Robinow syndrome (disorder)
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | Robinow syndrome (RS) is a rare genetic syndrome characterised by limb shortening and abnormalities of the head, face and external genitalia. A rare genetic syndrome with characteristics of limb shortening and abnormalities of the head, face and external genitalia. Two forms of the syndrome with different patterns of inheritance and variable frequency of clinical signs have been described: a milder autosomal dominant form and a more severe autosomal recessive form. The syndrome has a wide clinical spectrum. Transmission is autosomal dominant or recessive. Robinow syndrome (RS) is a rare genetic syndrome characterized by limb shortening and abnormalities of the head, face and external genitalia. |
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| altLabel |
Foetal face syndrome
Robinow Silverman Smith syndrome
Acral dysostosis with facial and genital abnormalities
Fetal face syndrome
Robinow syndrome (disorder)
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| prefLabel | Robinow syndrome
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| Type ID |
900000000000003001
900000000000013009
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| CASE SIGNIFICANCE ID |
900000000000448009
900000000000017005
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| notation | 76520005
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| Effective time | 20020131
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| Active | 1
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| Has finding site | |
| interprets | |
| Has pathological process | |
| subClassOf |
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| Semantic type UMLS property | |
| Has interpretation | |
| type | |
| Subset member | 6011000124106~MAPADVICE~ALWAYS Q87.19 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE
447562003~MAPRULE~TRUE
900000000000497000~MAPTARGET~PKy67
6011000124106~MAPGROUP~1
6011000124106~MAPTARGET~Q87.1
900000000000508004~ACCEPTABILITYID~900000000000549004
6011000124106~MAPTARGET~Q87.19
447562003~MAPGROUP~1
447562003~CORRELATIONID~447561005
6011000124106~MAPCATEGORYID~447637006
447562003~MAPTARGET~Q87.1
900000000000509007~ACCEPTABILITYID~900000000000548007
900000000000508004~ACCEPTABILITYID~900000000000548007
447562003~MAPPRIORITY~1
447562003~MAPCATEGORYID~447637006
447562003~MAPADVICE~ALWAYS Q87.1 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
6011000124106~MAPPRIORITY~1
6011000124106~CORRELATIONID~447561005
6011000124106~MAPRULE~TRUE
900000000000509007~ACCEPTABILITYID~900000000000549004
6011000124106~MAPADVICE~ALWAYS Q87.1 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE
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| DEFINITION STATUS ID | 900000000000074008
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| tui | T047
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| CTV3ID | PKy67
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| Occurs in | |
| cui | C0265205
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| Has associated morphology |
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