774151000: Ferro-cerebro-cutaneous syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Viscus structure finding\Abdominal organ finding\Liver finding\Liver disease\Metabolic and genetic disorder affecting the liver\Ferro-cerebro-cutaneous syndrome

\Digestive system finding\Liver finding\Liver disease\Metabolic and genetic disorder affecting the liver\Ferro-cerebro-cutaneous syndrome
\Digestive system finding\Disorder of digestive system\Digestive system hereditary disorder\Ferro-cerebro-cutaneous syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive organ\Liver disease\Metabolic and genetic disorder affecting the liver\Ferro-cerebro-cutaneous syndrome

\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Liver disease\Metabolic and genetic disorder affecting the liver\Ferro-cerebro-cutaneous syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Abdominal organ finding\Liver finding\Liver disease\Metabolic and genetic disorder affecting the liver\Ferro-cerebro-cutaneous syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Liver disease\Metabolic and genetic disorder affecting the liver\Ferro-cerebro-cutaneous syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Liver disease\Metabolic and genetic disorder affecting the liver\Ferro-cerebro-cutaneous syndrome

\Central nervous system finding\Finding of brain\Encephalopathy\Ferro-cerebro-cutaneous syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Ferro-cerebro-cutaneous syndrome
\Central nervous system finding\Disorder of the central nervous system\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 of brain\Encephalopathy\Ferro-cerebro-cutaneous syndrome

\Disorder of head\Encephalopathy\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\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\Ferro-cerebro-cutaneous syndrome
\Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Ferro-cerebro-cutaneous syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Ferro-cerebro-cutaneous syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\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\Digestive system hereditary disorder\Ferro-cerebro-cutaneous syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive organ\Liver disease\Metabolic and genetic disorder affecting the liver\Ferro-cerebro-cutaneous syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Liver disease\Metabolic and genetic disorder affecting the liver\Ferro-cerebro-cutaneous syndrome
\Disease\Disorder of head\Encephalopathy\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\Ferro-cerebro-cutaneous syndrome
\Disease\Malnutrition\Disorder of hyperalimentation\Excess intake of micronutrients\Mineral excess\Iron overload\Ferro-cerebro-cutaneous syndrome

Status: current, Primitive. 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 Active Case insensitive SNOMED CT core

3728151019 Ferro-cerebro-cutaneous syndrome en Synonym Active Case insensitive SNOMED CT core

3728152014 Ferro-cerebro-cutaneous syndrome (disorder) en Fully specified name Active Case insensitive 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 Case sensitive 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 Case sensitive 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	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	Encephalopathy	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	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

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3728150018	Cerebro-cutaneous syndrome with iron overload	en	Synonym	Active	Case insensitive	SNOMED CT core
3728151019	Ferro-cerebro-cutaneous syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3728152014	Ferro-cerebro-cutaneous syndrome (disorder)	en	Fully specified name	Active	Case insensitive	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	Case sensitive	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	Case sensitive	SNOMED CT core