774151000: Ferro-cerebro-cutaneous syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Viscus structure finding (finding)\Liver finding\Disease of liver\Metabolic and genetic disorder affecting the liver\Ferro-cerebro-cutaneous syndrome

\Finding of trunk structure\Liver finding\Disease of liver\Metabolic and genetic disorder affecting the liver\Ferro-cerebro-cutaneous syndrome
\Finding of trunk structure\Disorder of trunk (disorder)\Disease of liver\Metabolic and genetic disorder affecting the liver\Ferro-cerebro-cutaneous syndrome

\Disease\Genetic disease\Hereditary disease\X-linked recessive hereditary disease\Ferro-cerebro-cutaneous syndrome
\Disease\Disorder of body system\Disease of liver\Metabolic and genetic disorder affecting the liver\Ferro-cerebro-cutaneous syndrome
\Disease\Disorder of trunk (disorder)\Disease of liver\Metabolic and genetic disorder affecting the liver\Ferro-cerebro-cutaneous syndrome
\Disease\Metabolic disease\Metabolic and genetic disorder affecting the liver\Ferro-cerebro-cutaneous syndrome
\Disease\Metabolic disease\Disorder of mineral metabolism\Iron overload\Ferro-cerebro-cutaneous syndrome

Status: current. Date: 31-Jan 2019

Descriptions:

Id Description Lang Type Status Case? Module

3728150018 Cerebro-cutaneous syndrome with iron overload en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3728151019 Ferro-cerebro-cutaneous syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3728152014 Ferro-cerebro-cutaneous syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3728153016 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. en Definition Inactive Entire term case sensitive (core metadata concept) SNOMED CT core
3728154010 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. en Definition Inactive Entire term case sensitive (core metadata concept) SNOMED CT core
5405482012 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5405483019 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Ferro-cerebro-cutaneous syndrome	Is a	X-linked recessive hereditary disease	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly
Ferro-cerebro-cutaneous syndrome	Is a	Metabolic and genetic disorder affecting the liver	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly
Ferro-cerebro-cutaneous syndrome	Is a	Iron overload	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly
Ferro-cerebro-cutaneous syndrome	Associated morphology	Degenerative abnormality	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly	1
Ferro-cerebro-cutaneous syndrome	Finding site	Brain structure	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly	1
Ferro-cerebro-cutaneous syndrome	Causative agent	Iron and/or iron compound	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly	2
Ferro-cerebro-cutaneous syndrome	Finding site	Liver structure	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3728150018	Cerebro-cutaneous syndrome with iron overload	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3728151019	Ferro-cerebro-cutaneous syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3728152014	Ferro-cerebro-cutaneous syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3728153016	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.	en	Definition	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
3728154010	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.	en	Definition	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
5405482012	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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5405483019	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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core