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763686007: syndroom van gekruld haar, acrale keratodermie en cariës (aandoening)


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
6356801000146115 CHAC-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6356811000146118 CHACS nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6585871000146110 syndroom van gekruld haar, acrale keratodermie en cariës nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6585881000146112 syndroom van gekruld haar, acrale keratodermie en cariës (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
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) Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Curly hair, acral keratoderma, caries syndrome (disorder) Is a Ectodermal dysplasia with hair-tooth-nail-sweating defect true Inferred relationship Some
Curly hair, acral keratoderma, caries syndrome (disorder) Is a Hereditary disorder of the integument false Inferred relationship Some
Curly hair, acral keratoderma, caries syndrome (disorder) Is a Hereditary diffuse palmoplantar keratoderma (disorder) true Inferred relationship Some
Curly hair, acral keratoderma, caries syndrome (disorder) Has interpretation Abnormal false Inferred relationship Some 4
Curly hair, acral keratoderma, caries syndrome (disorder) Interprets Keratinization false Inferred relationship Some 4
Curly hair, acral keratoderma, caries syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Curly hair, acral keratoderma, caries syndrome (disorder) Occurrence Congenital true Inferred relationship Some 3
Curly hair, acral keratoderma, caries syndrome (disorder) Finding site Skin structure false Inferred relationship Some 3
Curly hair, acral keratoderma, caries syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Curly hair, acral keratoderma, caries syndrome (disorder) Associated morphology gebrekkige ontwikkeling (afwijkende morfologie) false Inferred relationship Some 2
Curly hair, acral keratoderma, caries syndrome (disorder) Finding site Skin structure false Inferred relationship Some 2
Curly hair, acral keratoderma, caries syndrome (disorder) Associated morphology congenitale dysplasie (afwijkende morfologie) false Inferred relationship Some 1
Curly hair, acral keratoderma, caries syndrome (disorder) Associated morphology Hyperkeratosis false Inferred relationship Some 3
Curly hair, acral keratoderma, caries syndrome (disorder) Finding site Ectoderm structure true Inferred relationship Some 1
Curly hair, acral keratoderma, caries syndrome (disorder) Associated morphology Hyperkeratosis true Inferred relationship Some 2
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) Associated morphology Dysplasia true Inferred relationship Some 1
Curly hair, acral keratoderma, caries syndrome (disorder) Is a 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) Is a Genetic disorder of nail (disorder) true Inferred relationship Some
Curly hair, acral keratoderma, caries syndrome (disorder) Interprets Sweating, function (observable entity) true Inferred relationship Some 6
Curly hair, acral keratoderma, caries syndrome (disorder) Associated morphology Hyperkeratosis true Inferred relationship Some 8
Curly hair, acral keratoderma, caries syndrome (disorder) Finding site Skin structure of palmar area of hand false Inferred relationship Some 8
Curly hair, acral keratoderma, caries syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 4
Curly hair, acral keratoderma, caries syndrome (disorder) Occurrence Congenital true Inferred relationship Some 5
Curly hair, acral keratoderma, caries syndrome (disorder) Finding site Nail unit structure true Inferred relationship Some 4
Curly hair, acral keratoderma, caries syndrome (disorder) Finding site Skin structure of sole of foot (body structure) 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) Has interpretation Abnormal true Inferred relationship Some 6
Curly hair, acral keratoderma, caries syndrome (disorder) Associated morphology Hyperkeratosis true Inferred relationship Some 7
Curly hair, acral keratoderma, caries syndrome (disorder) Finding site Tooth structure true Inferred relationship Some 3
Curly hair, acral keratoderma, caries syndrome (disorder) Is a Digestive system hereditary disorder (disorder) false Inferred relationship Some
Curly hair, acral keratoderma, caries syndrome (disorder) Occurrence Congenital true Inferred relationship Some 4
Curly hair, acral keratoderma, caries syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 5
Curly hair, acral keratoderma, caries syndrome (disorder) Finding site Entire skin true Inferred relationship Some 2
Curly hair, acral keratoderma, caries syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 3
Curly hair, acral keratoderma, caries syndrome (disorder) Finding site Hair structure (body structure) true Inferred relationship Some 5
Curly hair, acral keratoderma, caries syndrome (disorder) Is a Ichthyosis true Inferred relationship Some
Curly hair, acral keratoderma, caries syndrome (disorder) Finding site Entire skin of palmar area of hand true Inferred relationship Some 7
Curly hair, acral keratoderma, caries syndrome (disorder) Finding site Entire skin of sole of foot true Inferred relationship Some 8
Curly hair, acral keratoderma, caries syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Curly hair, acral keratoderma, caries syndrome (disorder) Is a Hereditary disorder of tooth true Inferred relationship Some
Curly hair, acral keratoderma, caries syndrome (disorder) Is a Congenital palmoplantar keratoderma (disorder) true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Description inactivation indicator reference set

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