Preferred Name |
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome |
|
Synonyms |
Fitzsimmons McLachlan Gilbert syndrome |
|
Definitions |
This syndrome has characteristics of intellectual deficit, spasticity in the lower limbs (spastic paraplegia), pes cavus deformity of both feet, an abnormal gait, and palmar and plantar hyperkeratosis. It has been reported in four brothers. The mother of the affected boys had normal intelligence, plantar hyperkeratosis and a strong facial resemblance to her retarded sons. Her three daughters were normal. This syndrome most likely an X-linked recessive condition. |
|
ID |
http://purl.bioontology.org/ontology/SNOMEDCT/722209002 |
|
Active |
1 |
|
altLabel |
Fitzsimmons McLachlan Gilbert syndrome Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) |
|
CASE SIGNIFICANCE ID |
900000000000448009 900000000000017005 |
|
CTV3ID |
XUutI |
|
cui |
C2745996 |
|
definition |
This syndrome has characteristics of intellectual deficit, spasticity in the lower limbs (spastic paraplegia), pes cavus deformity of both feet, an abnormal gait, and palmar and plantar hyperkeratosis. It has been reported in four brothers. The mother of the affected boys had normal intelligence, plantar hyperkeratosis and a strong facial resemblance to her retarded sons. Her three daughters were normal. This syndrome most likely an X-linked recessive condition. |
|
DEFINITION STATUS ID |
900000000000074008 |
|
Effective time |
20170131 |
|
Has associated morphology |
http://purl.bioontology.org/ontology/SNOMEDCT/2559001 |
|
Has finding site |
http://purl.bioontology.org/ontology/SNOMEDCT/32153003 http://purl.bioontology.org/ontology/SNOMEDCT/62175007 http://purl.bioontology.org/ontology/SNOMEDCT/56459004 http://purl.bioontology.org/ontology/SNOMEDCT/37136002 http://purl.bioontology.org/ontology/SNOMEDCT/70887009 |
|
Has interpretation |
http://purl.bioontology.org/ontology/SNOMEDCT/263654008 |
|
Has pathological process | ||
interprets |
http://purl.bioontology.org/ontology/SNOMEDCT/406208005 http://purl.bioontology.org/ontology/SNOMEDCT/44138005 http://purl.bioontology.org/ontology/SNOMEDCT/247573007 |
|
notation |
722209002 |
|
prefLabel |
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome |
|
Subset member |
447562003~MAPRULE~TRUE 900000000000497000~MAPTARGET~XUutI 6011000124106~MAPADVICE~ALWAYS F79 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE 6011000124106~MAPTARGET~F78.A9 6011000124106~MAPADVICE~ALWAYS F78.A9 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE 6011000124106~MAPGROUP~1 6011000124106~MAPGROUP~2 447562003~MAPGROUP~2 447562003~MAPADVICE~ALWAYS F79.9 900000000000508004~ACCEPTABILITYID~900000000000549004 447562003~MAPGROUP~1 6011000124106~MAPTARGET~F79 6011000124106~MAPTARGET~Q82.8 447562003~CORRELATIONID~447561005 6011000124106~MAPCATEGORYID~447637006 6011000124106~MAPADVICE~ALWAYS G80.1 900000000000509007~ACCEPTABILITYID~900000000000548007 447562003~MAPTARGET~G82.1 900000000000508004~ACCEPTABILITYID~900000000000548007 447562003~MAPTARGET~Q82.8 447562003~MAPPRIORITY~1 447562003~MAPTARGET~F79.9 447562003~MAPCATEGORYID~447637006 447562003~MAPADVICE~ALWAYS Q82.8 447562003~MAPADVICE~ALWAYS G82.1 6011000124106~MAPTARGET~G80.1 6011000124106~MAPPRIORITY~1 6011000124106~MAPADVICE~ALWAYS Q82.8 6011000124106~CORRELATIONID~447561005 6011000124106~MAPRULE~TRUE 447562003~MAPGROUP~3 6011000124106~MAPGROUP~3 900000000000509007~ACCEPTABILITYID~900000000000549004 |
|
tui |
T047 |
|
Type ID |
900000000000003001 900000000000013009 |
|
subClassOf |
http://purl.bioontology.org/ontology/SNOMEDCT/363070008 http://purl.bioontology.org/ontology/SNOMEDCT/363235000 http://purl.bioontology.org/ontology/SNOMEDCT/192967009 http://purl.bioontology.org/ontology/SNOMEDCT/239066003 http://purl.bioontology.org/ontology/SNOMEDCT/36755004 http://purl.bioontology.org/ontology/SNOMEDCT/254214009 http://purl.bioontology.org/ontology/SNOMEDCT/829993001 |
Delete | Mapping To | Ontology | Source |
---|---|---|---|
http://purl.bioontology.org/ontology/SCTSPA/722209002 | SCTSPA | CUI | |
http://purl.bioontology.org/ontology/MESH/C537058 | MESH | CUI | |
http://purl.bioontology.org/ontology/OMIM/309560 | OMIM | CUI |