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1279835008: Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Apr 2023. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5234039012 Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5234040014 Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5400708011 A rare ectodermal dysplasia syndrome characterized by hypotrichosis, tooth enamel hypoplasia, hypoplastic nails, palmoplantar keratoderma, hyperhidrosis on hands, face, and scalp, bilateral partial cutaneous syndactyly, and dysmorphic facial features with large prominent ear pinnae, pointed nose, and thin upper lips. Association of cardiomegaly has also been reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5400709015 A rare ectodermal dysplasia syndrome characterised by hypotrichosis, tooth enamel hypoplasia, hypoplastic nails, palmoplantar keratoderma, hyperhidrosis on hands, face, and scalp, bilateral partial cutaneous syndactyly, and dysmorphic facial features with large prominent ear pinnae, pointed nose, and thin upper lips. Association of cardiomegaly has also been reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5234039012 Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5234040014 Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5234041013 A rare ectodermal dysplasia syndrome with characteristics of hypotrichosis, tooth enamel hypoplasia, hypoplastic nails, palmoplantar keratoderma, hyperhidrosis on hands, face, and scalp, bilateral partial cutaneous syndactyly and dysmorphic facial features with large prominent ear pinnae, pointed nose, and thin upper lips. Association of cardiomegaly has also been reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5400708011 A rare ectodermal dysplasia syndrome characterized by hypotrichosis, tooth enamel hypoplasia, hypoplastic nails, palmoplantar keratoderma, hyperhidrosis on hands, face, and scalp, bilateral partial cutaneous syndactyly, and dysmorphic facial features with large prominent ear pinnae, pointed nose, and thin upper lips. Association of cardiomegaly has also been reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5400709015 A rare ectodermal dysplasia syndrome characterised by hypotrichosis, tooth enamel hypoplasia, hypoplastic nails, palmoplantar keratoderma, hyperhidrosis on hands, face, and scalp, bilateral partial cutaneous syndactyly, and dysmorphic facial features with large prominent ear pinnae, pointed nose, and thin upper lips. Association of cardiomegaly has also been reported. 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
Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder) Is a Ectodermal dysplasia with hair-tooth-nail defects true Inferred relationship Existential restriction modifier (core metadata concept)
Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder) Is a Hereditary palmoplantar keratoderma true Inferred relationship Existential restriction modifier (core metadata concept)
Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder) Is a Enamel hypoplasia (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder) Is a Syndactyly (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder) Is a Genetic disorder of nail (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder) Is a Hypotrichosis (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder) Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Existential restriction modifier (core metadata concept)
Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder) Is a Amelogenesis imperfecta (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder) Is a Skin lesion true Inferred relationship Existential restriction modifier (core metadata concept)
Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder) Finding site Ectoderm structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder) Associated morphology Dysplasia true Inferred relationship Existential restriction modifier (core metadata concept) 1
Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 4
Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder) Finding site Skin structure of digit (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder) Associated morphology Congenital abnormal fusion false Inferred relationship Existential restriction modifier (core metadata concept) 4
Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 5
Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder) Finding site Face structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 5
Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder) Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 5
Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 5
Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 6
Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder) Finding site Enamel structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 6
Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder) Associated morphology Hypoplasia true Inferred relationship Existential restriction modifier (core metadata concept) 6
Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 6
Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 7
Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder) Finding site Nail unit structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 7
Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder) Associated morphology Hypoplasia true Inferred relationship Existential restriction modifier (core metadata concept) 7
Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 7
Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 8
Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder) Finding site Hair structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 8
Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder) Associated morphology Growth alteration true Inferred relationship Existential restriction modifier (core metadata concept) 8
Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 8
Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder) Finding site Skin structure of sole of foot (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder) Associated morphology Hyperkeratosis true Inferred relationship Existential restriction modifier (core metadata concept) 2
Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder) Finding site Skin structure of palmar area of hand true Inferred relationship Existential restriction modifier (core metadata concept) 3
Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder) Associated morphology Hyperkeratosis true Inferred relationship Existential restriction modifier (core metadata concept) 3
Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder) Is a Hyperhidrosis (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder) Finding site Sweat gland structure true Inferred relationship Existential restriction modifier (core metadata concept) 10
Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder) Interprets Sweating, function (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept) 9
Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder) Has interpretation Excessive (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 9
Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder) Associated morphology Abnormally fused structure (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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