Link to this page
SNOMED CT, US Edition
| Id | http://purl.bioontology.org/ontology/SNOMEDCT/774151000
http://purl.bioontology.org/ontology/SNOMEDCT/774151000
|
|---|---|
| Preferred Name | Ferro-cerebro-cutaneous syndrome |
| Definitions |
A rare genetic metabolic liver disease with characteristics of progressive neurodegeneration, cutaneous abnormalities including varying degrees of ichthyosis or seborrhoeic dermatitis, and systemic iron overload. Patients manifest with infantile-onset seizures, encephalopathy, abnormal eye movements, axial hypotonia with peripheral hypertonia, brisk reflexes, cortical blindness and deafness, myoclonus and hepato/splenomegaly, as well as oral manifestations including microdontia, widely spaced and pointed teeth with delayed eruption and gingival overgrowth.
A rare genetic metabolic liver disease with characteristics of progressive neurodegeneration, cutaneous abnormalities including varying degrees of ichthyosis or seborrheic dermatitis, and systemic iron overload. Patients manifest with infantile-onset seizures, encephalopathy, abnormal eye movements, axial hypotonia with peripheral hypertonia, brisk reflexes, cortical blindness and deafness, myoclonus and hepato/splenomegaly, as well as oral manifestations including microdontia, widely spaced and pointed teeth with delayed eruption and gingival overgrowth.
Ferro-cerebro-cutaneous syndrome is a rare, genetic, metabolic liver disease characterised by progressive neurodegeneration, cutaneous abnormalities, including varying degrees of ichthyosis or seborrhoeic dermatitis, and systemic iron overload. Patients manifest with infantile-onset seizures, encephalopathy, abnormal eye movements, axial hypotonia with peripheral hypertonia, brisk reflexes, cortical blindness and deafness, myoclonus and hepato/splenomegaly, as well as oral manifestations, including microdontia, widely spaced and pointed teeth with delayed eruption, and gingival overgrowth.
Ferro-cerebro-cutaneous syndrome is a rare, genetic, metabolic liver disease characterized by progressive neurodegeneration, cutaneous abnormalities, including varying degrees of ichthyosis or seborrheic dermatitis, and systemic iron overload. Patients manifest with infantile-onset seizures, encephalopathy, abnormal eye movements, axial hypotonia with peripheral hypertonia, brisk reflexes, cortical blindness and deafness, myoclonus and hepato/splenomegaly, as well as oral manifestations, including microdontia, widely spaced and pointed teeth with delayed eruption, and gingival overgrowth.
|
| Synonyms |
Cerebro-cutaneous syndrome with iron overload
Ferro-cerebro-cutaneous syndrome (disorder)
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | A rare genetic metabolic liver disease with characteristics of progressive neurodegeneration, cutaneous abnormalities including varying degrees of ichthyosis or seborrhoeic dermatitis, and systemic iron overload. Patients manifest with infantile-onset seizures, encephalopathy, abnormal eye movements, axial hypotonia with peripheral hypertonia, brisk reflexes, cortical blindness and deafness, myoclonus and hepato/splenomegaly, as well as oral manifestations including microdontia, widely spaced and pointed teeth with delayed eruption and gingival overgrowth. A rare genetic metabolic liver disease with characteristics of progressive neurodegeneration, cutaneous abnormalities including varying degrees of ichthyosis or seborrheic dermatitis, and systemic iron overload. Patients manifest with infantile-onset seizures, encephalopathy, abnormal eye movements, axial hypotonia with peripheral hypertonia, brisk reflexes, cortical blindness and deafness, myoclonus and hepato/splenomegaly, as well as oral manifestations including microdontia, widely spaced and pointed teeth with delayed eruption and gingival overgrowth. Ferro-cerebro-cutaneous syndrome is a rare, genetic, metabolic liver disease characterised by progressive neurodegeneration, cutaneous abnormalities, including varying degrees of ichthyosis or seborrhoeic dermatitis, and systemic iron overload. Patients manifest with infantile-onset seizures, encephalopathy, abnormal eye movements, axial hypotonia with peripheral hypertonia, brisk reflexes, cortical blindness and deafness, myoclonus and hepato/splenomegaly, as well as oral manifestations, including microdontia, widely spaced and pointed teeth with delayed eruption, and gingival overgrowth. Ferro-cerebro-cutaneous syndrome is a rare, genetic, metabolic liver disease characterized by progressive neurodegeneration, cutaneous abnormalities, including varying degrees of ichthyosis or seborrheic dermatitis, and systemic iron overload. Patients manifest with infantile-onset seizures, encephalopathy, abnormal eye movements, axial hypotonia with peripheral hypertonia, brisk reflexes, cortical blindness and deafness, myoclonus and hepato/splenomegaly, as well as oral manifestations, including microdontia, widely spaced and pointed teeth with delayed eruption, and gingival overgrowth. |
|---|---|
| altLabel |
Cerebro-cutaneous syndrome with iron overload
Ferro-cerebro-cutaneous syndrome (disorder)
|
| prefLabel | Ferro-cerebro-cutaneous syndrome
|
| Type ID |
900000000000003001
900000000000013009
|
| CASE SIGNIFICANCE ID | 900000000000448009
|
| notation | 774151000
|
| Effective time | 20190131
|
| Active | 1
|
| Has finding site | |
| Has causative agent | |
| subClassOf |
See more
See less
|
| Semantic type UMLS property | |
| type | |
| Subset member | 447562003~MAPTARGET~G23.0
447562003~MAPRULE~TRUE
6011000124106~MAPGROUP~1
900000000000508004~ACCEPTABILITYID~900000000000549004
447562003~MAPGROUP~1
447562003~CORRELATIONID~447561005
6011000124106~MAPCATEGORYID~447637006
900000000000509007~ACCEPTABILITYID~900000000000548007
900000000000508004~ACCEPTABILITYID~900000000000548007
447562003~MAPPRIORITY~1
6011000124106~MAPTARGET~E83.19
447562003~MAPCATEGORYID~447637006
6011000124106~MAPADVICE~ALWAYS E83.19 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE
900000000000497000~MAPTARGET~XV7iI
6011000124106~MAPPRIORITY~1
6011000124106~CORRELATIONID~447561005
6011000124106~MAPRULE~TRUE
900000000000509007~ACCEPTABILITYID~900000000000549004
447562003~MAPADVICE~ALWAYS G23.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
See more
See less
|
| DEFINITION STATUS ID | 900000000000074008
|
| tui | T047
|
| CTV3ID | XV7iI
|
| cui | C4751570
|
| Has associated morphology |
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |