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722385008: Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3331783012 Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3331784018 Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3331785017 CEDNIK syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3331786016 CEDNIK (cerebral dysgenesis, neuropathy, ichthyosis, keratoderma) syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402907016 A rare, genetic, neurocutaneous disease characterized by severe developmental abnormalities of the nervous system and aberrant differentiation of the epidermis. Patients present with a unique constellation of clinical signs described with the acronym CEDNIK: CErebral Dysgenesis, Neuropathy, Ichthyosis, and palmoplantar Keratoderma. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402908014 A rare, genetic, neurocutaneous disease characterised by severe developmental abnormalities of the nervous system and aberrant differentiation of the epidermis. Patients present with a unique constellation of clinical signs described with the acronym CEDNIK: CErebral Dysgenesis, Neuropathy, Ichthyosis, and palmoplantar Keratoderma. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3331783012 Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3331783012 Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3331784018 Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3331784018 Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3331785017 CEDNIK syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3331786016 CEDNIK (cerebral dysgenesis, neuropathy, ichthyosis, keratoderma) syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3331787013 A neurocutaneous syndrome with characteristics of severe developmental abnormalities of the nervous system and aberrant differentiation of the epidermis. It has been described so far in seven affected individuals (four boys and three girls) from two consanguineous families. Clinically, the patients display a unique constellation of clinical signs described with the acronym CEDNIK: CErebral dysgenesis, Neuropathy, Ichthyosis, and palmoplantar Keratoderma. It is caused by mutations in the SNAP29 gene (22q11.2) that encodes a SNARE protein involved in vesicle fusion. The disease is inherited as an autosomal recessive condition. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402907016 A rare, genetic, neurocutaneous disease characterized by severe developmental abnormalities of the nervous system and aberrant differentiation of the epidermis. Patients present with a unique constellation of clinical signs described with the acronym CEDNIK: CErebral Dysgenesis, Neuropathy, Ichthyosis, and palmoplantar Keratoderma. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402908014 A rare, genetic, neurocutaneous disease characterised by severe developmental abnormalities of the nervous system and aberrant differentiation of the epidermis. Patients present with a unique constellation of clinical signs described with the acronym CEDNIK: CErebral Dysgenesis, Neuropathy, Ichthyosis, and palmoplantar Keratoderma. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3422871001000118 CEDNIK-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5826071000241115 syndrome de dysgénésie cérébrale, neuropathie, ichtyose et kératodermie palmoplantaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5826081000241118 syndrome CEDNIK (cerebral dysgenesis, neuropathy, ichthyosis, keratoderma) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5826071000241115 syndrome de dysgénésie cérébrale, neuropathie, ichtyose et kératodermie palmoplantaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5826081000241118 syndrome CEDNIK (cerebral dysgenesis, neuropathy, ichthyosis, keratoderma) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3422871001000118 CEDNIK-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder) Is a Neurocutaneous syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder) Is a Anomalies of cerebrum false Inferred relationship Existential restriction modifier (core metadata concept)
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder) Is a dysgénésie cérébrale false Inferred relationship Existential restriction modifier (core metadata concept)
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder) Is a Hereditary disorder of nervous system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder) Is a Hereditary diffuse palmoplantar keratoderma true Inferred relationship Existential restriction modifier (core metadata concept)
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder) Is a Autosomal recessive ichthyosis (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder) Has definitional manifestation Abnormal keratinization false Inferred relationship Existential restriction modifier (core metadata concept)
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder) Associated morphology Hyperkeratosis true Inferred relationship Existential restriction modifier (core metadata concept) 5
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 5
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder) Finding site Skin structure false Inferred relationship Existential restriction modifier (core metadata concept) 5
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder) Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 6
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 6
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder) Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 7
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 7
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder) Finding site Skin structure false Inferred relationship Existential restriction modifier (core metadata concept) 6
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder) Finding site The cerebrum is the regional structure of the brain, which is the adult equivalent of the forebrain or prosencephalon. It is constituted by the structural derivatives of the telencephalon and diencephalon including the cerebral hemispheres, epithalamus, thalamus, hypothalamus, lateral ventricles and third ventricle. This definition is harmonious with the Federation of Association of Anatomist Second Edition (2019) Part V Terminologia Anatomica. false Inferred relationship Existential restriction modifier (core metadata concept) 7
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder) Has interpretation Abnormal true Inferred relationship Existential restriction modifier (core metadata concept) 4
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder) Interprets Keratinisation true Inferred relationship Existential restriction modifier (core metadata concept) 4
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder) Finding site The cerebrum is the regional structure of the brain, which is the adult equivalent of the forebrain or prosencephalon. It is constituted by the structural derivatives of the telencephalon and diencephalon including the cerebral hemispheres, epithalamus, thalamus, hypothalamus, lateral ventricles and third ventricle. This definition is harmonious with the Federation of Association of Anatomist Second Edition (2019) Part V Terminologia Anatomica. true Inferred relationship Existential restriction modifier (core metadata concept) 1
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder) Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder) Associated morphology Hyperkeratosis true Inferred relationship Existential restriction modifier (core metadata concept) 2
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder) Finding site Skin structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder) Is a Congenital anomaly of cerebrum (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder) Finding site Skin structure of palmar area of hand false Inferred relationship Existential restriction modifier (core metadata concept) 5
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder) Finding site Skin structure of sole of foot (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 3
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder) Finding site Entire skin true Inferred relationship Existential restriction modifier (core metadata concept) 2
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder) Associated morphology Hyperkeratosis true Inferred relationship Existential restriction modifier (core metadata concept) 3
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder) Is a Rough skin of hands (finding) true Inferred relationship Existential restriction modifier (core metadata concept)
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder) Finding site Entire skin of palmar area of hand true Inferred relationship Existential restriction modifier (core metadata concept) 3
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder) Finding site Entire skin of sole of foot true Inferred relationship Existential restriction modifier (core metadata concept) 5
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder) Finding site Nervous system structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 6
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder) Associated morphology Neoplasm true Inferred relationship Existential restriction modifier (core metadata concept) 6
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder) Finding site Skin structure true Inferred relationship Existential restriction modifier (core metadata concept) 7
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder) Associated morphology Neoplasm true Inferred relationship Existential restriction modifier (core metadata concept) 7
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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