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763686007: Curly hair, acral keratoderma, caries syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3643283010 CHACS - curly hair, acral keratoderma, caries syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3643284016 Curly hair, acral keratoderma, caries syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3643285015 Curly hair, acral keratoderma, caries syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3643288018 An extremely rare ectodermal dysplasia syndrome with characteristics of premature loss of curly, brittle, dry hair, premature loss of teeth due to caries, nail dystrophy with thickening of the finger and toe-nails, acral keratoderma and hypohidrosis. Additionally, sparse eyebrows and eyelashes, receding frontal hairline and flattened malar region are associated. The severity of features appears to increase with age. 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
Curly hair, acral keratoderma, caries syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Curly hair, acral keratoderma, caries syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Curly hair, acral keratoderma, caries syndrome (disorder) morphologie associée (attribut) dysplasie true Inferred relationship Some 1
Curly hair, acral keratoderma, caries syndrome (disorder) est un(e) (attribut) Autosomal dominant ichthyosis (disorder) false Inferred relationship Some
Curly hair, acral keratoderma, caries syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 5
Curly hair, acral keratoderma, caries syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Curly hair, acral keratoderma, caries syndrome (disorder) est un(e) (attribut) Genetic disorder of nail (disorder) true Inferred relationship Some
Curly hair, acral keratoderma, caries syndrome (disorder) interprète (attribut) Sweating, function (observable entity) true Inferred relationship Some 6
Curly hair, acral keratoderma, caries syndrome (disorder) morphologie associée (attribut) Hyperkeratosis true Inferred relationship Some 8
Curly hair, acral keratoderma, caries syndrome (disorder) localisation d'une constatation (attribut) peau de la région palmaire de la main (structure corporelle) false Inferred relationship Some 8
Curly hair, acral keratoderma, caries syndrome (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 4
Curly hair, acral keratoderma, caries syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 5
Curly hair, acral keratoderma, caries syndrome (disorder) localisation d'une constatation (attribut) Nail unit structure true Inferred relationship Some 4
Curly hair, acral keratoderma, caries syndrome (disorder) localisation d'une constatation (attribut) Skin structure of sole of foot false Inferred relationship Some 7
Curly hair, acral keratoderma, caries syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
Curly hair, acral keratoderma, caries syndrome (disorder) a pour interprétation (attribut) anormal true Inferred relationship Some 6
Curly hair, acral keratoderma, caries syndrome (disorder) morphologie associée (attribut) Hyperkeratosis true Inferred relationship Some 7
Curly hair, acral keratoderma, caries syndrome (disorder) localisation d'une constatation (attribut) dent (structure corporelle) true Inferred relationship Some 3
Curly hair, acral keratoderma, caries syndrome (disorder) est un(e) (attribut) Digestive system hereditary disorder false Inferred relationship Some
Curly hair, acral keratoderma, caries syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 4
Curly hair, acral keratoderma, caries syndrome (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 5
Curly hair, acral keratoderma, caries syndrome (disorder) localisation d'une constatation (attribut) Entire skin true Inferred relationship Some 2
Curly hair, acral keratoderma, caries syndrome (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 3
Curly hair, acral keratoderma, caries syndrome (disorder) localisation d'une constatation (attribut) Hair structure (body structure) true Inferred relationship Some 5
Curly hair, acral keratoderma, caries syndrome (disorder) est un(e) (attribut) Ichthyosis true Inferred relationship Some
Curly hair, acral keratoderma, caries syndrome (disorder) localisation d'une constatation (attribut) Entire skin of palmar area of hand true Inferred relationship Some 7
Curly hair, acral keratoderma, caries syndrome (disorder) localisation d'une constatation (attribut) Entire skin of sole of foot true Inferred relationship Some 8
Curly hair, acral keratoderma, caries syndrome (disorder) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Curly hair, acral keratoderma, caries syndrome (disorder) est un(e) (attribut) Hereditary disorder of tooth true Inferred relationship Some
Curly hair, acral keratoderma, caries syndrome (disorder) est un(e) (attribut) Autosomal dominant hereditary disorder true Inferred relationship Some
Curly hair, acral keratoderma, caries syndrome (disorder) est un(e) (attribut) Ectodermal dysplasia with hair-tooth-nail-sweating defect true Inferred relationship Some
Curly hair, acral keratoderma, caries syndrome (disorder) est un(e) (attribut) Hereditary disorder of the integument false Inferred relationship Some
Curly hair, acral keratoderma, caries syndrome (disorder) est un(e) (attribut) Hereditary diffuse palmoplantar keratoderma (disorder) true Inferred relationship Some
Curly hair, acral keratoderma, caries syndrome (disorder) a pour interprétation (attribut) anormal false Inferred relationship Some 4
Curly hair, acral keratoderma, caries syndrome (disorder) interprète (attribut) Keratinization, function (observable entity) false Inferred relationship Some 4
Curly hair, acral keratoderma, caries syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Curly hair, acral keratoderma, caries syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 3
Curly hair, acral keratoderma, caries syndrome (disorder) localisation d'une constatation (attribut) structure de la peau false Inferred relationship Some 3
Curly hair, acral keratoderma, caries syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Curly hair, acral keratoderma, caries syndrome (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 2
Curly hair, acral keratoderma, caries syndrome (disorder) localisation d'une constatation (attribut) structure de la peau false Inferred relationship Some 2
Curly hair, acral keratoderma, caries syndrome (disorder) morphologie associée (attribut) Congenital dysplasia false Inferred relationship Some 1
Curly hair, acral keratoderma, caries syndrome (disorder) morphologie associée (attribut) Hyperkeratosis false Inferred relationship Some 3
Curly hair, acral keratoderma, caries syndrome (disorder) localisation d'une constatation (attribut) Ectoderm structure true Inferred relationship Some 1
Curly hair, acral keratoderma, caries syndrome (disorder) morphologie associée (attribut) Hyperkeratosis true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Canada English language reference set (foundation metadata concept)

GB English

US English

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