Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-May 2022. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
5048286011 | Palmoplantar keratoderma, hereditary motor and sensory neuropathy syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
5048287019 | Palmoplantar keratoderma, Charcot-Marie-Tooth syndrome | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
5048291012 | Palmoplantar keratoderma, hereditary motor and sensory neuropathy syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
5048289016 | A rare genetic autosomal dominant hereditary axonal motor and sensory neuropathy disorder with characteristics of childhood-onset palmoplantar keratoderma associated with motor and sensory polyneuropathy manifesting with late-onset, predominantly distal, lower limb muscle weakness and atrophy (later associating mild proximal weakness and upper limb involvement), moderate sensory impairment and normal or near normal nerve conduction velocities. Additional variable manifestations include impaired vibratory sensation, reduced tendon reflexes, pain, talipes equinovarus, pes cavus and nail dystrophy. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Palmoplantar keratoderma, hereditary motor and sensory neuropathy syndrome (disorder) | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
Palmoplantar keratoderma, hereditary motor and sensory neuropathy syndrome (disorder) | Is a | Hereditary palmoplantar keratoderma | true | Inferred relationship | Some | ||
Palmoplantar keratoderma, hereditary motor and sensory neuropathy syndrome (disorder) | Is a | Hereditary motor and sensory neuropathy (disorder) | true | Inferred relationship | Some | ||
Palmoplantar keratoderma, hereditary motor and sensory neuropathy syndrome (disorder) | Finding site | Peripheral nervous system structure | true | Inferred relationship | Some | 3 | |
Palmoplantar keratoderma, hereditary motor and sensory neuropathy syndrome (disorder) | Finding site | Skin structure of sole of foot (body structure) | true | Inferred relationship | Some | 1 | |
Palmoplantar keratoderma, hereditary motor and sensory neuropathy syndrome (disorder) | Associated morphology | Hyperkeratosis | true | Inferred relationship | Some | 1 | |
Palmoplantar keratoderma, hereditary motor and sensory neuropathy syndrome (disorder) | Finding site | Skin structure of palmar area of hand | true | Inferred relationship | Some | 2 | |
Palmoplantar keratoderma, hereditary motor and sensory neuropathy syndrome (disorder) | Associated morphology | Hyperkeratosis | true | Inferred relationship | Some | 2 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets