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1222646006: Palmoplantar keratoderma, hereditary motor and sensory neuropathy syndrome (disorder)


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


0 descendants.

Expanded Value Set


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

GB English

US English

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