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722209002: Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis 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
3331161015 Fitzsimmons McLachlan Gilbert syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3331163017 Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3331164011 Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5402856019 A rare X-linked syndromic intellectual disability characterized by intellectual impairment of variable severity, progressive lower limb spasticity, and diffuse palmoplantar hyperkeratosis. Additional manifestations include pes cavus, extensor plantar responses, hand tremor, and mild dysmorphic facial features. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402857011 A rare X-linked syndromic intellectual disability characterised by intellectual impairment of variable severity, progressive lower limb spasticity, and diffuse palmoplantar hyperkeratosis. Additional manifestations include pes cavus, extensor plantar responses, hand tremor, and mild dysmorphic facial features. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3331161015 Fitzsimmons McLachlan Gilbert syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3331163017 Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3331163017 Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3331164011 Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3331164011 Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3331162010 This syndrome has characteristics of intellectual deficit, spasticity in the lower limbs (spastic paraplegia), pes cavus deformity of both feet, an abnormal gait, and palmar and plantar hyperkeratosis. It has been reported in four brothers. The mother of the affected boys had normal intelligence, plantar hyperkeratosis and a strong facial resemblance to her retarded sons. Her three daughters were normal. This syndrome most likely an X-linked recessive condition. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402856019 A rare X-linked syndromic intellectual disability characterized by intellectual impairment of variable severity, progressive lower limb spasticity, and diffuse palmoplantar hyperkeratosis. Additional manifestations include pes cavus, extensor plantar responses, hand tremor, and mild dysmorphic facial features. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402857011 A rare X-linked syndromic intellectual disability characterised by intellectual impairment of variable severity, progressive lower limb spasticity, and diffuse palmoplantar hyperkeratosis. Additional manifestations include pes cavus, extensor plantar responses, hand tremor, and mild dysmorphic facial features. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3419731001000114 Paraplegie-Intelligenzminderung-Hyperkeratose-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3419731001000114 Paraplegie-Intelligenzminderung-Hyperkeratose-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
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) Is a retard mental false Inferred relationship Existential restriction modifier (core metadata concept)
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) Is a X-linked hereditary disease false Inferred relationship Existential restriction modifier (core metadata concept)
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) Is a Congenital paraplegia (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) Is a Spastic paraplegia true Inferred relationship Existential restriction modifier (core metadata concept)
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) Is a Hereditary palmoplantar keratoderma true Inferred relationship Existential restriction modifier (core metadata concept)
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) Is a Hereditary disorder of the integument (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) Is a Hereditary disorder of nervous system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) Finding site Structure of central nervous system true Inferred relationship Existential restriction modifier (core metadata concept) 4
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) Finding site Lower limb structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 3
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) Has definitional manifestation Abnormal keratinization false Inferred relationship Existential restriction modifier (core metadata concept)
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 5
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 5
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) Finding site Skin structure false Inferred relationship Existential restriction modifier (core metadata concept) 5
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) Associated morphology Hyperkeratosis false Inferred relationship Existential restriction modifier (core metadata concept) 6
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 6
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) Finding site Skin structure false Inferred relationship Existential restriction modifier (core metadata concept) 6
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) Is a Intelligenzminderung true Inferred relationship Existential restriction modifier (core metadata concept)
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) Interprets Keratinisation false Inferred relationship Existential restriction modifier (core metadata concept) 2
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) Has interpretation Abnormal false Inferred relationship Existential restriction modifier (core metadata concept) 2
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 5
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) Associated morphology Hyperkeratosis true Inferred relationship Existential restriction modifier (core metadata concept) 3
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) Associated morphology Hyperkeratosis true Inferred relationship Existential restriction modifier (core metadata concept) 2
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) Finding site Skin structure of palmar area of hand true Inferred relationship Existential restriction modifier (core metadata concept) 2
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) Finding site Skin structure of sole of foot (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) Is a X-linked recessive hereditary disease true Inferred relationship Existential restriction modifier (core metadata concept)
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) Is a pied creux true Inferred relationship Existential restriction modifier (core metadata concept)
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) Is a Rough skin of hands (finding) true Inferred relationship Existential restriction modifier (core metadata concept)
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) Interprets Keratinisation true Inferred relationship Existential restriction modifier (core metadata concept) 6
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) Has interpretation Abnormal true Inferred relationship Existential restriction modifier (core metadata concept) 6
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) Finding site Foot structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) Associated morphology Claw-shaped deformity (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) Finding site Ankle region structure true Inferred relationship Existential restriction modifier (core metadata concept) 7
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) Associated morphology Deformity (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 7
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) Is a Inherited disorder of keratinisation true Inferred relationship Existential restriction modifier (core metadata concept)
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) Interprets Intellectual ability (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept) 8
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 8
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) Interprets Adaptation behavior false Inferred relationship Existential restriction modifier (core metadata concept) 9
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) Has interpretation Impaired (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 9
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) Interprets Movement true Inferred relationship Existential restriction modifier (core metadata concept) 11
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) Interprets Movement observable true Inferred relationship Existential restriction modifier (core metadata concept) 10
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) Has interpretation Absent true Inferred relationship Existential restriction modifier (core metadata concept) 10
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) Finding site Structure of right lower limb (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 9
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) Finding site Structure of left lower limb (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 13
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) Interprets Adaptation behavior true Inferred relationship Existential restriction modifier (core metadata concept) 12
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 12

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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