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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
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


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 5
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) morphologie associée (attribut) Hyperkeratosis true Inferred relationship Some 3
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) morphologie associée (attribut) Hyperkeratosis true Inferred relationship Some 2
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) localisation d'une constatation (attribut) peau de la région palmaire de la main (structure corporelle) true Inferred relationship Some 2
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) localisation d'une constatation (attribut) Skin structure of sole of foot true Inferred relationship Some 3
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) est un(e) (attribut) X-linked recessive hereditary disease true Inferred relationship Some
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) est un(e) (attribut) Talipes cavus (disorder) true Inferred relationship Some
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) est un(e) (attribut) Rough skin of hands true Inferred relationship Some
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) interprète (attribut) Keratinization, function (observable entity) true Inferred relationship Some 6
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) a pour interprétation (attribut) anormal true Inferred relationship Some 6
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) localisation d'une constatation (attribut) pied (structure corporelle) true Inferred relationship Some 1
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) morphologie associée (attribut) Claw-shaped deformity true Inferred relationship Some 1
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) localisation d'une constatation (attribut) région de la cheville (structure corporelle) true Inferred relationship Some 7
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) morphologie associée (attribut) Deformity true Inferred relationship Some 7
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) est un(e) (attribut) Inherited disorder of keratinization true Inferred relationship Some
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) est un(e) (attribut) Mental retardation false Inferred relationship Some
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) est un(e) (attribut) X-linked hereditary disease false Inferred relationship Some
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) est un(e) (attribut) Congenital paraplegia false Inferred relationship Some
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) est un(e) (attribut) Spastic paraplegia true Inferred relationship Some
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) est un(e) (attribut) Hereditary palmoplantar keratoderma true Inferred relationship Some
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) est un(e) (attribut) Hereditary disorder of the integument false Inferred relationship Some
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) est un(e) (attribut) Hereditary disorder of nervous system true Inferred relationship Some
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) localisation d'une constatation (attribut) Structure of central nervous system (body structure) true Inferred relationship Some 4
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) localisation d'une constatation (attribut) membre inférieur false Inferred relationship Some 3
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) est défini par la manifestation de (attribut) Abnormal keratinisation false Inferred relationship Some
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 5
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 5
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) localisation d'une constatation (attribut) structure de la peau false Inferred relationship Some 5
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) morphologie associée (attribut) Hyperkeratosis false Inferred relationship Some 6
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 6
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) localisation d'une constatation (attribut) structure de la peau false Inferred relationship Some 6
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) est un(e) (attribut) Intellectual disability true Inferred relationship Some
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) interprète (attribut) Keratinization, function (observable entity) false Inferred relationship Some 2
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) a pour interprétation (attribut) anormal false Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Client's clinical problems, conditions, diagnoses, symptoms, findings, complaints reference set (foundation metadata concept)

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