774151000: Ferro-cerebro-cutaneous syndrome (disorder)

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

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

\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Degenerative brain disorder\Ferro-cerebro-cutaneous syndrome
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Ferro-cerebro-cutaneous syndrome

\Digestive system finding (finding)\Liver finding\Disease of liver\Metabolic and genetic disorder affecting the liver\Ferro-cerebro-cutaneous syndrome
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Digestive system hereditary disorder (disorder)\Ferro-cerebro-cutaneous syndrome
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Disorder of liver and/or biliary tract\Disease of liver\Metabolic and genetic disorder affecting the liver\Ferro-cerebro-cutaneous syndrome

\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of liver and/or biliary tract\Disease of liver\Metabolic and genetic disorder affecting the liver\Ferro-cerebro-cutaneous syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Liver finding\Disease of liver\Metabolic and genetic disorder affecting the liver\Ferro-cerebro-cutaneous syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Disorder of liver and/or biliary tract\Disease of liver\Metabolic and genetic disorder affecting the liver\Ferro-cerebro-cutaneous syndrome
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of liver and/or biliary tract\Disease of liver\Metabolic and genetic disorder affecting the liver\Ferro-cerebro-cutaneous syndrome

\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Degenerative brain disorder\Ferro-cerebro-cutaneous syndrome
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Ferro-cerebro-cutaneous syndrome
\Central nervous system finding\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Ferro-cerebro-cutaneous syndrome
\Central nervous system finding\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Degenerative brain disorder\Ferro-cerebro-cutaneous syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Ferro-cerebro-cutaneous syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Digestive system hereditary disorder (disorder)\Ferro-cerebro-cutaneous syndrome
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\Ferro-cerebro-cutaneous syndrome
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Ferro-cerebro-cutaneous syndrome
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Degenerative brain disorder\Ferro-cerebro-cutaneous syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Ferro-cerebro-cutaneous syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Digestive system hereditary disorder (disorder)\Ferro-cerebro-cutaneous syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Ferro-cerebro-cutaneous syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Ferro-cerebro-cutaneous syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Ferro-cerebro-cutaneous syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Degenerative brain disorder\Ferro-cerebro-cutaneous syndrome
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Digestive system hereditary disorder (disorder)\Ferro-cerebro-cutaneous syndrome
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Disorder of liver and/or biliary tract\Disease of liver\Metabolic and genetic disorder affecting the liver\Ferro-cerebro-cutaneous syndrome
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of liver and/or biliary tract\Disease of liver\Metabolic and genetic disorder affecting the liver\Ferro-cerebro-cutaneous syndrome
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\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\Disorder of iron metabolism\Iron overload (disorder)\Ferro-cerebro-cutaneous syndrome
\Disease\Nutritional disorder\Disorder of hyperalimentation\Excess intake of micronutrients\Mineral excess\Iron overload (disorder)\Ferro-cerebro-cutaneous syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

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 Active 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 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	Digestive system hereditary disorder (disorder)	true	Inferred relationship	Some
Ferro-cerebro-cutaneous syndrome	Causative agent	Iron and/or iron compound	true	Inferred relationship	Some	2
Ferro-cerebro-cutaneous syndrome	Is a	Disorder of brain (disorder)	false	Inferred relationship	Some
Ferro-cerebro-cutaneous syndrome	Finding site	Brain structure	true	Inferred relationship	Some	1
Ferro-cerebro-cutaneous syndrome	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Some
Ferro-cerebro-cutaneous syndrome	Is a	Degenerative disease of the central nervous system	false	Inferred relationship	Some
Ferro-cerebro-cutaneous syndrome	Associated morphology	Degeneration	false	Inferred relationship	Some	1
Ferro-cerebro-cutaneous syndrome	Is a	Iron overload (disorder)	true	Inferred relationship	Some
Ferro-cerebro-cutaneous syndrome	Is a	Metabolic and genetic disorder affecting the liver	true	Inferred relationship	Some
Ferro-cerebro-cutaneous syndrome	Is a	X-linked hereditary disease	false	Inferred relationship	Some
Ferro-cerebro-cutaneous syndrome	Finding site	Liver structure	true	Inferred relationship	Some	3
Ferro-cerebro-cutaneous syndrome	Associated morphology	Degenerative abnormality	true	Inferred relationship	Some	1
Ferro-cerebro-cutaneous syndrome	Is a	Hereditary degenerative disease of central nervous system	true	Inferred relationship	Some
Ferro-cerebro-cutaneous syndrome	Is a	X-linked recessive hereditary disease	true	Inferred relationship	Some
Ferro-cerebro-cutaneous syndrome	Is a	Degenerative brain disorder	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

GB English

US English

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	Active	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	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core