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


Status: current, Primitive. 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 Active Case sensitive SNOMED CT core
3643284016 Curly hair, acral keratoderma, caries syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3643285015 Curly hair, acral keratoderma, caries syndrome en Synonym Active Case insensitive 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 Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Curly hair, acral keratoderma, caries syndrome Pathological process Pathological developmental process true Inferred relationship Some 1
Curly hair, acral keratoderma, caries syndrome Pathological process Pathological developmental process true Inferred relationship Some 2
Curly hair, acral keratoderma, caries syndrome Associated morphology Dysplasia true Inferred relationship Some 1
Curly hair, acral keratoderma, caries syndrome Is a Autosomal dominant ichthyosis false Inferred relationship Some
Curly hair, acral keratoderma, caries syndrome Pathological process Pathological developmental process true Inferred relationship Some 5
Curly hair, acral keratoderma, caries syndrome Pathological process Pathological developmental process true Inferred relationship Some 3
Curly hair, acral keratoderma, caries syndrome Is a Genetic disorder of nail true Inferred relationship Some
Curly hair, acral keratoderma, caries syndrome Interprets Sweating true Inferred relationship Some 6
Curly hair, acral keratoderma, caries syndrome Associated morphology Hyperkeratosis true Inferred relationship Some 8
Curly hair, acral keratoderma, caries syndrome Finding site Skin structure of palmar area of hand false Inferred relationship Some 8
Curly hair, acral keratoderma, caries syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Some 4
Curly hair, acral keratoderma, caries syndrome Occurrence Congenital true Inferred relationship Some 5
Curly hair, acral keratoderma, caries syndrome Finding site Nail unit structure true Inferred relationship Some 4
Curly hair, acral keratoderma, caries syndrome Finding site Skin structure of sole of foot false Inferred relationship Some 7
Curly hair, acral keratoderma, caries syndrome Pathological process Pathological developmental process true Inferred relationship Some 4
Curly hair, acral keratoderma, caries syndrome Has interpretation Abnormal true Inferred relationship Some 6
Curly hair, acral keratoderma, caries syndrome Associated morphology Hyperkeratosis true Inferred relationship Some 7
Curly hair, acral keratoderma, caries syndrome Finding site Tooth structure true Inferred relationship Some 3
Curly hair, acral keratoderma, caries syndrome Is a Digestive system hereditary disorder false Inferred relationship Some
Curly hair, acral keratoderma, caries syndrome Occurrence Congenital true Inferred relationship Some 4
Curly hair, acral keratoderma, caries syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Some 5
Curly hair, acral keratoderma, caries syndrome Finding site Entire skin true Inferred relationship Some 2
Curly hair, acral keratoderma, caries syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Some 3
Curly hair, acral keratoderma, caries syndrome Finding site Hair structure true Inferred relationship Some 5
Curly hair, acral keratoderma, caries syndrome Is a Ichthyosis true Inferred relationship Some
Curly hair, acral keratoderma, caries syndrome Finding site Entire skin of palmar area of hand true Inferred relationship Some 7
Curly hair, acral keratoderma, caries syndrome Finding site Entire skin of sole of foot true Inferred relationship Some 8
Curly hair, acral keratoderma, caries syndrome Is a Developmental hereditary disorder true Inferred relationship Some
Curly hair, acral keratoderma, caries syndrome Is a Hereditary disorder of tooth true Inferred relationship Some
Curly hair, acral keratoderma, caries syndrome Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Curly hair, acral keratoderma, caries syndrome Is a Ectodermal dysplasia with hair-tooth-nail-sweating defect true Inferred relationship Some
Curly hair, acral keratoderma, caries syndrome Is a Hereditary disorder of the integument false Inferred relationship Some
Curly hair, acral keratoderma, caries syndrome Is a Hereditary diffuse palmoplantar keratoderma true Inferred relationship Some
Curly hair, acral keratoderma, caries syndrome Has interpretation Abnormal false Inferred relationship Some 4
Curly hair, acral keratoderma, caries syndrome Interprets Keratinisation false Inferred relationship Some 4
Curly hair, acral keratoderma, caries syndrome Occurrence Congenital true Inferred relationship Some 2
Curly hair, acral keratoderma, caries syndrome Occurrence Congenital true Inferred relationship Some 3
Curly hair, acral keratoderma, caries syndrome Finding site Skin structure false Inferred relationship Some 3
Curly hair, acral keratoderma, caries syndrome Occurrence Congenital true Inferred relationship Some 1
Curly hair, acral keratoderma, caries syndrome Associated morphology Developmental abnormality false Inferred relationship Some 2
Curly hair, acral keratoderma, caries syndrome Finding site Skin structure false Inferred relationship Some 2
Curly hair, acral keratoderma, caries syndrome Associated morphology Congenital dysplasia false Inferred relationship Some 1
Curly hair, acral keratoderma, caries syndrome Associated morphology Hyperkeratosis false Inferred relationship Some 3
Curly hair, acral keratoderma, caries syndrome Finding site Ectoderm structure true Inferred relationship Some 1
Curly hair, acral keratoderma, caries syndrome Associated morphology Hyperkeratosis true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

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