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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
5404143010 Curly hair-acral keratoderma-caries syndrome is an extremely rare ectodermal dysplasia syndrome characterized by premature loss of curly, brittle, dry hair, premature loss of teeth due to caries, nail dystrophy with thickening of the finger- and toenails, 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
5404144016 Curly hair-acral keratoderma-caries syndrome is an extremely rare ectodermal dysplasia syndrome characterised by premature loss of curly, brittle, dry hair, premature loss of teeth due to caries, nail dystrophy with thickening of the finger- and toenails, 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
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
5404143010 Curly hair-acral keratoderma-caries syndrome is an extremely rare ectodermal dysplasia syndrome characterized by premature loss of curly, brittle, dry hair, premature loss of teeth due to caries, nail dystrophy with thickening of the finger- and toenails, 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
5404144016 Curly hair-acral keratoderma-caries syndrome is an extremely rare ectodermal dysplasia syndrome characterised by premature loss of curly, brittle, dry hair, premature loss of teeth due to caries, nail dystrophy with thickening of the finger- and toenails, 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
3414301001000116 Kraushaar-akrales Keratoderm-Karies-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5886281000241115 syndrome des cheveux frisés, kératodermie acrale et caries fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5886291000241118 syndrome CHAC (curly hair, acral keratoderma, caries) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5886281000241115 syndrome des cheveux frisés, kératodermie acrale et caries fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5886291000241118 syndrome CHAC (curly hair, acral keratoderma, caries) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3414301001000116 Kraushaar-akrales Keratoderm-Karies-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
Curly hair, acral keratoderma, caries syndrome (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Curly hair, acral keratoderma, caries syndrome (disorder) Is a Ectodermal dysplasia with hair-tooth-nail-sweating defect true Inferred relationship Existential restriction modifier (core metadata concept)
Curly hair, acral keratoderma, caries syndrome (disorder) Is a Hereditary disorder of the integument (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Curly hair, acral keratoderma, caries syndrome (disorder) Is a Hereditary diffuse palmoplantar keratoderma true Inferred relationship Existential restriction modifier (core metadata concept)
Curly hair, acral keratoderma, caries syndrome (disorder) Has interpretation Abnormal false Inferred relationship Existential restriction modifier (core metadata concept) 4
Curly hair, acral keratoderma, caries syndrome (disorder) Interprets Keratinisation false Inferred relationship Existential restriction modifier (core metadata concept) 4
Curly hair, acral keratoderma, caries syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Curly hair, acral keratoderma, caries syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Curly hair, acral keratoderma, caries syndrome (disorder) Finding site Skin structure false Inferred relationship Existential restriction modifier (core metadata concept) 3
Curly hair, acral keratoderma, caries syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Curly hair, acral keratoderma, caries syndrome (disorder) Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 2
Curly hair, acral keratoderma, caries syndrome (disorder) Finding site Skin structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Curly hair, acral keratoderma, caries syndrome (disorder) Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 1
Curly hair, acral keratoderma, caries syndrome (disorder) Associated morphology Hyperkeratosis false Inferred relationship Existential restriction modifier (core metadata concept) 3
Curly hair, acral keratoderma, caries syndrome (disorder) Finding site Ectoderm structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Curly hair, acral keratoderma, caries syndrome (disorder) Associated morphology Hyperkeratosis true Inferred relationship Existential restriction modifier (core metadata concept) 2
Curly hair, acral keratoderma, caries syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Curly hair, acral keratoderma, caries syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Curly hair, acral keratoderma, caries syndrome (disorder) Associated morphology Dysplasia true Inferred relationship Existential restriction modifier (core metadata concept) 1
Curly hair, acral keratoderma, caries syndrome (disorder) Is a Autosomal dominant ichthyosis (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Curly hair, acral keratoderma, caries syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 5
Curly hair, acral keratoderma, caries syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Curly hair, acral keratoderma, caries syndrome (disorder) Is a Genetic disorder of nail (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Curly hair, acral keratoderma, caries syndrome (disorder) Interprets Sweating, function (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept) 6
Curly hair, acral keratoderma, caries syndrome (disorder) Associated morphology Hyperkeratosis true Inferred relationship Existential restriction modifier (core metadata concept) 8
Curly hair, acral keratoderma, caries syndrome (disorder) Finding site Skin structure of palmar area of hand false Inferred relationship Existential restriction modifier (core metadata concept) 8
Curly hair, acral keratoderma, caries syndrome (disorder) Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 4
Curly hair, acral keratoderma, caries syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 5
Curly hair, acral keratoderma, caries syndrome (disorder) Finding site Nail unit structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Curly hair, acral keratoderma, caries syndrome (disorder) Finding site Skin structure of sole of foot (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 7
Curly hair, acral keratoderma, caries syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Curly hair, acral keratoderma, caries syndrome (disorder) Has interpretation Abnormal true Inferred relationship Existential restriction modifier (core metadata concept) 6
Curly hair, acral keratoderma, caries syndrome (disorder) Associated morphology Hyperkeratosis true Inferred relationship Existential restriction modifier (core metadata concept) 7
Curly hair, acral keratoderma, caries syndrome (disorder) Finding site Tooth structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
Curly hair, acral keratoderma, caries syndrome (disorder) Is a Digestive system hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Curly hair, acral keratoderma, caries syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 4
Curly hair, acral keratoderma, caries syndrome (disorder) Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 5
Curly hair, acral keratoderma, caries syndrome (disorder) Finding site Entire skin true Inferred relationship Existential restriction modifier (core metadata concept) 2
Curly hair, acral keratoderma, caries syndrome (disorder) Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
Curly hair, acral keratoderma, caries syndrome (disorder) Finding site Hair structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 5
Curly hair, acral keratoderma, caries syndrome (disorder) Is a Ichthyosis (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Curly hair, acral keratoderma, caries syndrome (disorder) Finding site Entire skin of palmar area of hand true Inferred relationship Existential restriction modifier (core metadata concept) 7
Curly hair, acral keratoderma, caries syndrome (disorder) Finding site Entire skin of sole of foot true Inferred relationship Existential restriction modifier (core metadata concept) 8
Curly hair, acral keratoderma, caries syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Curly hair, acral keratoderma, caries syndrome (disorder) Is a Hereditary disorder of tooth true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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