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

\Functional finding\Finding of sweating\Hyperhidrosis\Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder)

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

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

5900191000052118 syndrom med ektodermal dysplasi, hyperhidros och kutan syndaktyli sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

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	Some
Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder)	Is a	Hereditary palmoplantar keratoderma	true	Inferred relationship	Some
Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder)	Is a	Enamel hypoplasia	true	Inferred relationship	Some
Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder)	Is a	Syndactyly (disorder)	true	Inferred relationship	Some
Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder)	Is a	Genetic disorder of nail (disorder)	true	Inferred relationship	Some
Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder)	Is a	Hypotrichosis	true	Inferred relationship	Some
Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder)	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder)	Is a	Amelogenesis imperfecta (disorder)	true	Inferred relationship	Some
Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder)	Is a	Skin lesion	true	Inferred relationship	Some
Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder)	Finding site	Ectoderm structure	true	Inferred relationship	Some	1
Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder)	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	4
Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder)	Finding site	Skin structure of digit (body structure)	true	Inferred relationship	Some	4
Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder)	Associated morphology	Congenital abnormal fusion	true	Inferred relationship	Some	4
Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	4
Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	5
Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder)	Finding site	Face structure	true	Inferred relationship	Some	5
Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	5
Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	5
Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	6
Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder)	Finding site	Enamel structure	true	Inferred relationship	Some	6
Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder)	Associated morphology	Hypoplasia	true	Inferred relationship	Some	6
Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	6
Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	7
Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder)	Finding site	Nail unit structure	true	Inferred relationship	Some	7
Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder)	Associated morphology	Hypoplasia	true	Inferred relationship	Some	7
Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	7
Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	8
Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder)	Finding site	Hair structure (body structure)	true	Inferred relationship	Some	8
Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder)	Associated morphology	Growth alteration	true	Inferred relationship	Some	8
Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	8
Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder)	Finding site	Skin structure of sole of foot (body structure)	true	Inferred relationship	Some	2
Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder)	Associated morphology	Hyperkeratosis	true	Inferred relationship	Some	2
Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder)	Finding site	Skin structure of palmar area of hand	true	Inferred relationship	Some	3
Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder)	Associated morphology	Hyperkeratosis	true	Inferred relationship	Some	3
Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder)	Is a	Hyperhidrosis	true	Inferred relationship	Some
Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder)	Finding site	Sweat gland structure	true	Inferred relationship	Some	10
Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder)	Interprets	Sweating, function (observable entity)	true	Inferred relationship	Some	9
Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder)	Has interpretation	Excessive	true	Inferred relationship	Some	9

Inbound Relationships

Characteristic

Refinability

This concept is not in any reference sets

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
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
5900191000052118	syndrom med ektodermal dysplasi, hyperhidros och kutan syndaktyli	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)