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774151000: syndrome ferro-cérébro-cutané (trouble)


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
772301000241110 syndrome ferro-cérébro-cutané (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
896361000172114 syndrome cérébro-cutané avec surcharge en fer fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
927221000172111 syndrome ferro-cérébro-cutané fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
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


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Ferro-cerebro-cutaneous syndrome est un(e) (attribut) 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 est un(e) (attribut) Disorder of brain (disorder) true Inferred relationship Some
Ferro-cerebro-cutaneous syndrome localisation d'une constatation (attribut) structure de l'encéphale true Inferred relationship Some 1
Ferro-cerebro-cutaneous syndrome est un(e) (attribut) Hereditary disorder of nervous system false Inferred relationship Some
Ferro-cerebro-cutaneous syndrome est un(e) (attribut) maladie dégénérative du système nerveux central false Inferred relationship Some
Ferro-cerebro-cutaneous syndrome morphologie associée (attribut) dégénérescence false Inferred relationship Some 1
Ferro-cerebro-cutaneous syndrome est un(e) (attribut) Iron overload true Inferred relationship Some
Ferro-cerebro-cutaneous syndrome est un(e) (attribut) troubles métaboliques et génétiques affectant le foie true Inferred relationship Some
Ferro-cerebro-cutaneous syndrome est un(e) (attribut) X-linked hereditary disease false Inferred relationship Some
Ferro-cerebro-cutaneous syndrome localisation d'une constatation (attribut) foie true Inferred relationship Some 3
Ferro-cerebro-cutaneous syndrome morphologie associée (attribut) Degenerative abnormality true Inferred relationship Some 1
Ferro-cerebro-cutaneous syndrome est un(e) (attribut) Hereditary degenerative disease of central nervous system true Inferred relationship Some
Ferro-cerebro-cutaneous syndrome est un(e) (attribut) X-linked recessive hereditary disease true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Description inactivation indicator reference set

GB English

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