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SNOMED CT, US Edition
| Id | http://purl.bioontology.org/ontology/SNOMEDCT/732958004
http://purl.bioontology.org/ontology/SNOMEDCT/732958004
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|---|---|
| Preferred Name | Spastic paraplegia with precocious puberty syndrome |
| Definitions |
Spastic paraplegia-precocious puberty syndrome is a complex form of hereditary spastic paraplegia characterized by the onset of progressive spastic paraplegia associated with precocious puberty (due to Leydig cell hyperplasia) in childhood (at the age of 2 years). Moderate intellectual disability was also reported. There have been no further descriptions in the literature since 1983.
Syndrome with characteristics of precocious puberty (due to Leydig cell hyperplasia), progressive spastic paraplegia and intellectual deficit. It has been described in two brothers. The fact that other family members displayed brisk reflexes and dysarthria suggested autosomal dominant inheritance with variable expression.
Spastic paraplegia-precocious puberty syndrome is a complex form of hereditary spastic paraplegia characterised by the onset of progressive spastic paraplegia associated with precocious puberty (due to Leydig cell hyperplasia) in childhood (at the age of 2 years). Moderate intellectual disability was also reported. There have been no further descriptions in the literature since 1983.
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| Synonyms |
Spastic paraplegia with precocious puberty syndrome (disorder)
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | Spastic paraplegia-precocious puberty syndrome is a complex form of hereditary spastic paraplegia characterized by the onset of progressive spastic paraplegia associated with precocious puberty (due to Leydig cell hyperplasia) in childhood (at the age of 2 years). Moderate intellectual disability was also reported. There have been no further descriptions in the literature since 1983. Syndrome with characteristics of precocious puberty (due to Leydig cell hyperplasia), progressive spastic paraplegia and intellectual deficit. It has been described in two brothers. The fact that other family members displayed brisk reflexes and dysarthria suggested autosomal dominant inheritance with variable expression. Spastic paraplegia-precocious puberty syndrome is a complex form of hereditary spastic paraplegia characterised by the onset of progressive spastic paraplegia associated with precocious puberty (due to Leydig cell hyperplasia) in childhood (at the age of 2 years). Moderate intellectual disability was also reported. There have been no further descriptions in the literature since 1983. |
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| altLabel | Spastic paraplegia with precocious puberty syndrome (disorder)
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| prefLabel | Spastic paraplegia with precocious puberty syndrome
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| Type ID |
900000000000003001
900000000000013009
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| CASE SIGNIFICANCE ID | 900000000000448009
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| notation | 732958004
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| Effective time | 20170731
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| Active | 1
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| Has finding site | |
| Has clinical course | |
| interprets | |
| Has pathological process | |
| subClassOf |
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| Semantic type UMLS property | |
| Has interpretation | |
| type | |
| Subset member | 447562003~MAPTARGET~E30.1
6011000124106~MAPTARGET~G11.4
6011000124106~MAPADVICE~ALWAYS G11.4
447562003~MAPRULE~TRUE
6011000124106~MAPTARGET~E30.1
6011000124106~MAPGROUP~1
6011000124106~MAPGROUP~2
447562003~MAPGROUP~2
447562003~MAPADVICE~ALWAYS E30.1
447562003~MAPTARGET~G11.4
6011000124106~MAPADVICE~IF AGE AT ONSET OF CLINICAL FINDING BEFORE 29.0 DAYS CHOOSE P96.89 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT
447562003~MAPGROUP~1
447562003~CORRELATIONID~447561005
6011000124106~MAPCATEGORYID~447637006
900000000000509007~ACCEPTABILITYID~900000000000548007
900000000000508004~ACCEPTABILITYID~900000000000548007
447562003~MAPPRIORITY~1
447562003~MAPCATEGORYID~447637006
900000000000497000~MAPTARGET~XUwxX
6011000124106~MAPRULE~OTHERWISE TRUE
447562003~MAPADVICE~ALWAYS G11.4 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
6011000124106~MAPCATEGORYID~447639009
6011000124106~MAPADVICE~ALWAYS E30.1
6011000124106~MAPPRIORITY~1
6011000124106~CORRELATIONID~447561005
6011000124106~MAPRULE~IFA 445518008 | Age at onset of clinical finding (observable entity) | < 29.0 days
6011000124106~MAPRULE~TRUE
6011000124106~MAPPRIORITY~2
6011000124106~MAPTARGET~P96.89
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| DEFINITION STATUS ID | 900000000000074008
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| tui | T047
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| CTV3ID | XUwxX
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| cui | C4518543
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| Has associated morphology |
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| No notes to display |