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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
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


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 Some
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder) Is a Anomalies of cerebrum false Inferred relationship Some
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder) Is a dysgénésie cérébrale false Inferred relationship Some
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder) Is a Hereditary disorder of nervous system true Inferred relationship Some
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder) Is a Hereditary diffuse palmoplantar keratoderma (disorder) true Inferred relationship Some
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder) Is a Autosomal recessive ichthyosis (disorder) true Inferred relationship Some
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder) Has definitional manifestation Abnormal keratinization false Inferred relationship Some
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder) Associated morphology Hyperkeratosis true Inferred relationship Some 5
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder) Occurrence Congenital false Inferred relationship Some 5
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder) Finding site Skin structure false Inferred relationship Some 5
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder) Associated morphology anomalie du développement false Inferred relationship Some 6
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder) Occurrence Congenital true Inferred relationship Some 6
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder) Associated morphology anomalie du développement false Inferred relationship Some 7
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder) Occurrence Congenital true Inferred relationship Some 7
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder) Finding site Skin structure false Inferred relationship Some 6
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder) Finding site Cerebrum false Inferred relationship Some 7
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder) Has interpretation Abnormal true Inferred relationship Some 4
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder) Interprets Keratinization true Inferred relationship Some 4
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder) Finding site Cerebrum true Inferred relationship Some 1
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 1
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder) Associated morphology Hyperkeratosis true Inferred relationship Some 2
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder) Finding site Skin structure false Inferred relationship Some 2
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder) Is a Congenital anomaly of cerebrum (disorder) true Inferred relationship Some
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder) Finding site Skin structure of palmar area of hand false Inferred relationship Some 5
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder) Finding site Skin structure of sole of foot (body structure) false Inferred relationship Some 3
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder) Finding site Entire skin true Inferred relationship Some 2
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder) Associated morphology Hyperkeratosis true Inferred relationship Some 3
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder) Is a Rough skin of hands true Inferred relationship Some
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder) Finding site Entire skin of palmar area of hand true Inferred relationship Some 3
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder) Finding site Entire skin of sole of foot true Inferred relationship Some 5
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder) Finding site Structure of nervous system (body structure) true Inferred relationship Some 6
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder) Associated morphology Neoplasm true Inferred relationship Some 6
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder) Finding site Skin structure true Inferred relationship Some 7
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder) Associated morphology Neoplasm true Inferred relationship Some 7

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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