SNOMED CT

Last uploaded: January 31, 2024
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

http://purl.bioontology.org/ontology/SNOMEDCT/6081001

http://purl.bioontology.org/ontology/SNOMEDCT/26996000

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

http://purl.bioontology.org/ontology/SNOMEDCT/21483005

http://purl.bioontology.org/ontology/SNOMEDCT/344001

Has interpretation

http://purl.bioontology.org/ontology/SNOMEDCT/263654008

http://purl.bioontology.org/ontology/SNOMEDCT/260379002

http://purl.bioontology.org/ontology/SNOMEDCT/2667000

Has pathological process

http://purl.bioontology.org/ontology/SNOMEDCT/308490002

interprets

http://purl.bioontology.org/ontology/SNOMEDCT/406208005

http://purl.bioontology.org/ontology/SNOMEDCT/44138005

http://purl.bioontology.org/ontology/SNOMEDCT/247573007

http://purl.bioontology.org/ontology/SNOMEDCT/363847004

http://purl.bioontology.org/ontology/SNOMEDCT/255324009

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

http://purl.bioontology.org/ontology/SNOMEDCT/1162976004

http://purl.bioontology.org/ontology/SNOMEDCT/110359009

Delete Subject Author Type Created
No notes to display