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

\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)\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)\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)\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)\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)\Ferro-cerebro-cutaneous syndrome
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of 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

\Finding of head and neck region\Head finding (finding)\...

\Finding of brain\Disorder of brain (disorder)\Ferro-cerebro-cutaneous syndrome

\Disorder of head (disorder)\Disorder of 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\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)\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 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)\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)\Disease of liver\Metabolic and genetic disorder affecting the liver\Ferro-cerebro-cutaneous syndrome
\Disease\Disorder of head (disorder)\Disorder of 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

896361000172114 syndrome cérébro-cutané avec surcharge en fer fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

927221000172111 syndrome ferro-cérébro-cutané fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

913861000172116 cerebro-cutaan syndroom met ijzerstapeling nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

930071000172119 ferro-cerebro-cutaan syndroom nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

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)	true	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

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
896361000172114	syndrome cérébro-cutané avec surcharge en fer	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
927221000172111	syndrome ferro-cérébro-cutané	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
913861000172116	cerebro-cutaan syndroom met ijzerstapeling	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
930071000172119	ferro-cerebro-cutaan syndroom	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)