loading...| Preferred Name |
Boucher Neuhäuser syndrome |
|
| Synonyms |
Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome |
|
| Definitions |
A very rare autosomal recessive and slowly progressive neurodegenerative disorder with the triad of cerebellar ataxia that generally manifests at adolescence or early adulthood, chorioretinal dystrophy which may have a later onset (up to the fifth-sixth decade) leading to variable degrees of visual impairment, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). |
|
| ID |
http://purl.bioontology.org/ontology/SNOMEDCT/715984007 |
|
| Active |
1 |
|
| altLabel |
Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder) |
|
| CASE SIGNIFICANCE ID |
900000000000448009 900000000000017005 |
|
| CTV3ID |
XUtJK |
|
| cui |
C1859093 |
|
| definition |
A very rare autosomal recessive and slowly progressive neurodegenerative disorder with the triad of cerebellar ataxia that generally manifests at adolescence or early adulthood, chorioretinal dystrophy which may have a later onset (up to the fifth-sixth decade) leading to variable degrees of visual impairment, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). |
|
| DEFINITION STATUS ID |
900000000000074008 |
|
| Effective time |
20160731 |
|
| Has associated morphology | ||
| Has clinical course | ||
| Has finding site |
http://purl.bioontology.org/ontology/SNOMEDCT/52618001 http://purl.bioontology.org/ontology/SNOMEDCT/113305005 |
|
| notation |
715984007 |
|
| prefLabel |
Boucher Neuhäuser syndrome |
|
| Subset member |
447562003~MAPRULE~TRUE 6011000124106~MAPTARGET~E28.39 6011000124106~MAPRULE~IFA 248153007 | Male (finding) | 6011000124106~MAPADVICE~MAP SOURCE CONCEPT CANNOT BE CLASSIFIED WITH AVAILABLE DATA 900000000000497000~MAPTARGET~XUtJK 6011000124106~MAPTARGET~ 6011000124106~MAPCATEGORYID~447638001 6011000124106~MAPGROUP~1 6011000124106~MAPGROUP~2 6011000124106~MAPTARGET~G11.9 6011000124106~MAPADVICE~ALWAYS G11.9 900000000000508004~ACCEPTABILITYID~900000000000549004 447562003~MAPGROUP~1 6011000124106~MAPADVICE~IF MALE CHOOSE E29.1 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP IS CONTEXT DEPENDENT FOR GENDER 447562003~CORRELATIONID~447561005 6011000124106~MAPCATEGORYID~447637006 900000000000509007~ACCEPTABILITYID~900000000000548007 6011000124106~MAPTARGET~E29.1 6011000124106~MAPTARGET~H31.20 447562003~MAPTARGET~G11.8 900000000000508004~ACCEPTABILITYID~900000000000548007 6011000124106~MAPADVICE~IF FEMALE CHOOSE E28.39 | MAP IS CONTEXT DEPENDENT FOR GENDER 447562003~MAPPRIORITY~1 447562003~MAPCATEGORYID~447637006 6011000124106~MAPRULE~OTHERWISE TRUE 6011000124106~MAPCATEGORYID~447639009 6011000124106~MAPADVICE~ALWAYS H31.20 447562003~MAPADVICE~ALWAYS G11.8 6011000124106~MAPPRIORITY~1 6011000124106~CORRELATIONID~447561005 6011000124106~MAPRULE~TRUE 6011000124106~MAPGROUP~3 6011000124106~MAPPRIORITY~3 6011000124106~MAPRULE~IFA 248152002 | Female (finding) | 900000000000509007~ACCEPTABILITYID~900000000000549004 6011000124106~MAPPRIORITY~2 |
|
| tui |
T047 |
|
| Type ID |
900000000000003001 900000000000013009 |
|
| subClassOf |
http://purl.bioontology.org/ontology/SNOMEDCT/363290007 http://purl.bioontology.org/ontology/SNOMEDCT/85102008 http://purl.bioontology.org/ontology/SNOMEDCT/763597000 http://purl.bioontology.org/ontology/SNOMEDCT/85995004 http://purl.bioontology.org/ontology/SNOMEDCT/33927004 http://purl.bioontology.org/ontology/SNOMEDCT/128290005 http://purl.bioontology.org/ontology/SNOMEDCT/78689005 |