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


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

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 SNOMED CT core module
3331784018 Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome en Synonym Active Entire term case insensitive SNOMED CT core module
3331785017 CEDNIK syndrome en Synonym Active Entire term case sensitive SNOMED CT core module
3331786016 CEDNIK (cerebral dysgenesis, neuropathy, ichthyosis, keratoderma) syndrome en Synonym Active Entire term case sensitive SNOMED CT core module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome Is a Neurocutaneous syndrome true Inferred relationship Existential restriction modifier
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome Is a Anomalies of cerebrum false Inferred relationship Existential restriction modifier
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome Is a Cerebral dysgenesis false Inferred relationship Existential restriction modifier
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome Is a Hereditary disorder of nervous system true Inferred relationship Existential restriction modifier
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome Is a Hereditary diffuse palmoplantar keratoderma true Inferred relationship Existential restriction modifier
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome Is a Autosomal recessive ichthyosis true Inferred relationship Existential restriction modifier
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome Has definitional manifestation Abnormal keratinization false Inferred relationship Existential restriction modifier
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome Associated morphology Hyperkeratosis true Inferred relationship Existential restriction modifier 5
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier 5
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome Finding site Skin structure false Inferred relationship Existential restriction modifier 5
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome Associated morphology Developmental anomaly false Inferred relationship Existential restriction modifier 6
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 6
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome Associated morphology Developmental anomaly false Inferred relationship Existential restriction modifier 7
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 7
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome Finding site Skin structure false Inferred relationship Existential restriction modifier 6
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome Finding site Structure of cerebrum false Inferred relationship Existential restriction modifier 7
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome Has interpretation Abnormal true Inferred relationship Existential restriction modifier 4
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome Interprets Keratinization, function true Inferred relationship Existential restriction modifier 4
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 2
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 2
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 1
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome Finding site Structure of cerebrum true Inferred relationship Existential restriction modifier 1
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier 1
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome Associated morphology Hyperkeratosis true Inferred relationship Existential restriction modifier 2
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome Finding site Skin structure false Inferred relationship Existential restriction modifier 2
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome Is a Congenital anomaly of cerebrum true Inferred relationship Existential restriction modifier
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome Finding site Skin structure of palmar area of hand false Inferred relationship Existential restriction modifier 5
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome Finding site Skin structure of sole of foot false Inferred relationship Existential restriction modifier 3
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome Finding site Entire skin true Inferred relationship Existential restriction modifier 2
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome Associated morphology Hyperkeratosis true Inferred relationship Existential restriction modifier 3
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome Is a Rough skin of hands true Inferred relationship Existential restriction modifier
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome Finding site Entire skin of palmar area of hand true Inferred relationship Existential restriction modifier 3
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome Finding site Entire skin of sole of foot true Inferred relationship Existential restriction modifier 5
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome Finding site Structure of nervous system true Inferred relationship Existential restriction modifier 6
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome Associated morphology Neoplasm true Inferred relationship Existential restriction modifier 6
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome Finding site Skin structure true Inferred relationship Existential restriction modifier 7
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome Associated morphology Neoplasm true Inferred relationship Existential restriction modifier 7

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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