239015008: Ectodermal dysplasia with hair-tooth-nail defects (disorder)

\Ectodermal dysplasia with hair-nail defect\Ectodermal dysplasia with hair-tooth-nail defects

\Ectodermal dysplasia with hair-tooth defects\Ectodermal dysplasia with hair-tooth-nail defects

\Ectodermal dysplasia with tooth-nail defects\Ectodermal dysplasia with hair-tooth-nail defects

\Ectodermal dysplasia with hair-nail defect\Ectodermal dysplasia with hair-tooth-nail defects

Descriptions:

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Ectodermal dysplasia with hair-tooth-nail defects	Is a	Ectodermal dysplasia	false	Inferred relationship	Some
Ectodermal dysplasia with hair-tooth-nail defects	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Ectodermal dysplasia with hair-tooth-nail defects	Finding site	Skin structure	false	Inferred relationship	Some	1
Ectodermal dysplasia with hair-tooth-nail defects	Occurrence	Congenital	false	Inferred relationship	Some
Ectodermal dysplasia with hair-tooth-nail defects	Associated morphology	kongenit anomali	false	Inferred relationship	Some
Ectodermal dysplasia with hair-tooth-nail defects	Associated morphology	kongenit dysplasi	false	Inferred relationship	Some	1
Ectodermal dysplasia with hair-tooth-nail defects	Finding site	Skin structure	false	Inferred relationship	Some	1
Ectodermal dysplasia with hair-tooth-nail defects	Associated morphology	kongenit dysplasi	false	Inferred relationship	Some	1
Ectodermal dysplasia with hair-tooth-nail defects	Finding site	Skin structure	false	Inferred relationship	Some	2
Ectodermal dysplasia with hair-tooth-nail defects	Occurrence	Congenital	true	Inferred relationship	Some	2
Ectodermal dysplasia with hair-tooth-nail defects	Associated morphology	dysgenese	false	Inferred relationship	Some	2
Ectodermal dysplasia with hair-tooth-nail defects	Occurrence	Congenital	true	Inferred relationship	Some	3
Ectodermal dysplasia with hair-tooth-nail defects	Associated morphology	kongenit dysplasi	false	Inferred relationship	Some	3
Ectodermal dysplasia with hair-tooth-nail defects	Finding site	Ectoderm structure	false	Inferred relationship	Some	3
Ectodermal dysplasia with hair-tooth-nail defects	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Ectodermal dysplasia with hair-tooth-nail defects	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Ectodermal dysplasia with hair-tooth-nail defects	Finding site	Ectoderm structure	true	Inferred relationship	Some	1
Ectodermal dysplasia with hair-tooth-nail defects	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	2
Ectodermal dysplasia with hair-tooth-nail defects	Occurrence	Congenital	true	Inferred relationship	Some	1
Ectodermal dysplasia with hair-tooth-nail defects	Finding site	Tooth structure	true	Inferred relationship	Some	2
Ectodermal dysplasia with hair-tooth-nail defects	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Ectodermal dysplasia with hair-tooth-nail defects	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	4
Ectodermal dysplasia with hair-tooth-nail defects	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	4
Ectodermal dysplasia with hair-tooth-nail defects	Is a	Ectodermal dysplasia with hair-tooth defects	true	Inferred relationship	Some
Ectodermal dysplasia with hair-tooth-nail defects	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	3
Ectodermal dysplasia with hair-tooth-nail defects	Is a	Ectodermal dysplasia with hair-nail defect	true	Inferred relationship	Some
Ectodermal dysplasia with hair-tooth-nail defects	Is a	Ectodermal dysplasia with tooth-nail defects	true	Inferred relationship	Some
Ectodermal dysplasia with hair-tooth-nail defects	Finding site	Nail unit is a complex structure which consists of nail plate, nail bed, nail root and skin around the nail plate.	true	Inferred relationship	Some	4
Ectodermal dysplasia with hair-tooth-nail defects	Finding site	Hair structure (body structure)	true	Inferred relationship	Some	3
Ectodermal dysplasia with hair-tooth-nail defects	Occurrence	Congenital	true	Inferred relationship	Some	4

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Tricho-onychodental dysplasia	Is a	True	Ectodermal dysplasia with hair-tooth-nail defects	Inferred relationship	Some
Schoepf-Schulz-Passage syndrome	Is a	True	Ectodermal dysplasia with hair-tooth-nail defects	Inferred relationship	Some
Odonto-onychial dysplasia with alopecia	Is a	True	Ectodermal dysplasia with hair-tooth-nail defects	Inferred relationship	Some
Fried's tooth and nail syndrome	Is a	True	Ectodermal dysplasia with hair-tooth-nail defects	Inferred relationship	Some
Hypodontia and nail dysgenesis	Is a	False	Ectodermal dysplasia with hair-tooth-nail defects	Inferred relationship	Some
Dermodental dysplasi	Is a	False	Ectodermal dysplasia with hair-tooth-nail defects	Inferred relationship	Some
Salamon's syndrome	Is a	True	Ectodermal dysplasia with hair-tooth-nail defects	Inferred relationship	Some
Ectodermal dysplasia, syndactyly and pili torti	Is a	True	Ectodermal dysplasia with hair-tooth-nail defects	Inferred relationship	Some
Dwarfism, alopecia, pseudoanodontia, cutis laxa	Is a	True	Ectodermal dysplasia with hair-tooth-nail defects	Inferred relationship	Some
Trichorhinophalangeal syndrome	Is a	False	Ectodermal dysplasia with hair-tooth-nail defects	Inferred relationship	Some
Schinzel-Giedion syndrome	Is a	True	Ectodermal dysplasia with hair-tooth-nail defects	Inferred relationship	Some
Tricho-dento-osseous syndrome	Is a	True	Ectodermal dysplasia with hair-tooth-nail defects	Inferred relationship	Some
Hidrotic ectodermal dysplasia syndrome	Is a	False	Ectodermal dysplasia with hair-tooth-nail defects	Inferred relationship	Some
Chondroectodermal dysplasia	Is a	True	Ectodermal dysplasia with hair-tooth-nail defects	Inferred relationship	Some
Odonto-onycho-dermal dysplasia (disorder)	Is a	True	Ectodermal dysplasia with hair-tooth-nail defects	Inferred relationship	Some
A rare ectodermal dysplasia syndrome characterized by a variably severe clinical picture comprising dry, thin skin, onychodysplasia, trichodysplasia, and dental abnormalities (such as hypodontia, microdontia, and persistence of deciduous teeth). There have been no further descriptions in the literature since 1990.	Is a	True	Ectodermal dysplasia with hair-tooth-nail defects	Inferred relationship	Some
A rare ectodermal dysplasia syndrome characterized by bilateral retinitis pigmentosa, trichodysplasia (generalized hypotrichosis, structural changes), dental anomalies, onychodysplasia, and dry and scaly skin. There have been no further descriptions in the literature since 1988.	Is a	True	Ectodermal dysplasia with hair-tooth-nail defects	Inferred relationship	Some
Ectodermal dysplasia, trichoodontoonychial type is a form of ectodermal dysplasia with hair, teeth and nail involvement characterized predominantly by hypodontia, hypotrichosis, delayed hair growth and brittle nails. Additionally, focal dermal hypoplasia, irregular hyperpigmentation, hypoplastic or absent nipples, amastia, hearing impairment, congenital hip dislocation and asthma have been associated. There have been no further descriptions in the literature since 1996.	Is a	True	Ectodermal dysplasia with hair-tooth-nail defects	Inferred relationship	Some
Trichodermodysplasia-dental alterations syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by sparse, thin, brittle scalp hair, as well as sparse eyebrows, eyelashes, axillary and pubic hair, delayed eruption of deciduous teeth and hypodontia of both dentitions. Mild palmoplantar keratosis, café-au-lait spots on back, mild dystrophy of nails, and tibial deflection of toes are also associated. There have been no further descriptions in the literature since 1986.	Is a	True	Ectodermal dysplasia with hair-tooth-nail defects	Inferred relationship	Some
Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome is an extremely rare ectodermal dysplasia syndrome characterized by hypotrichosis universalis with mild to severe scarring alopecia, acro-osteolysis, onychogryphosis, thin and tapered fingertips, periodontitis and caries leading to premature teeth loss, linear or reticular palmoplantar keratoderma and erythematous, scaling, psoriasis-like skin lesions on arms and legs. Lingua plicata and ventricular tachycardia have also been observed.	Is a	True	Ectodermal dysplasia with hair-tooth-nail defects	Inferred relationship	Some
Odonto-onycho dysplasia-alopecia syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by almost total alopecia with only sparse, thin, brittle, slow-growing scalp hair, fair and sparse eyebrows and eyelashes, absent axillary and pubic hair, fragile and brittle fingernails, thick and brittle toenails (both with a subungual corneal layer), hypodontia, microdontia, widely spaced teeth with hypoplastic enamel, mild palmoplantar keratosis, café-au-lait spots and areolae anomalies. There have been no further descriptions in the literature since 1985.	Is a	True	Ectodermal dysplasia with hair-tooth-nail defects	Inferred relationship	Some
Trichoodontoonychial dysplasia is a rare ectodermal dysplasia syndrome characterized by severe generalized hypotrichosis, parietal alopecia, secondary anodontia resulting from enamel hypoplasia, onychodystrophy, bone deficiency in the frontoparietal region and skin manifestations (including nevus pigmentosus, papules, ephelides, palmoplantar keratosis, supernumerary nipples, abnormal dermatoglyphics). There have been no further descriptions in the literature since 1983.	Is a	True	Ectodermal dysplasia with hair-tooth-nail defects	Inferred relationship	Some
A rare genetic developmental defect during embryogenesis syndrome with characteristics of camptodactyly, joint contractures with amyotrophy, and ectodermal anomalies (oligodontia, enamel abnormalities, longitudinally broken nails, hypohidrotic skin with tendency to excessive bruising and scarring after injuries and scratching), as well as growth retardation, kyphoscoliosis, mild facial dysmorphism and microcephaly. There have been no further descriptions in the literature since 1992.	Is a	True	Ectodermal dysplasia with hair-tooth-nail defects	Inferred relationship	Some
Ectodermal dysplasia with hair-tooth-nail-sweating defect (disorder)	Is a	True	Ectodermal dysplasia with hair-tooth-nail defects	Inferred relationship	Some
Incontinentia pigmenti syndrome	Is a	True	Ectodermal dysplasia with hair-tooth-nail defects	Inferred relationship	Some
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.	Is a	True	Ectodermal dysplasia with hair-tooth-nail defects	Inferred relationship	Some
Hypohidrosis-diabetes insipidus syndrome	Is a	True	Ectodermal dysplasia with hair-tooth-nail defects	Inferred relationship	Some

This concept is not in any reference sets

Id	Description	Lang	Type	Status	Case?	Module
358194013	Ectodermal dysplasia with hair-tooth-nail defects	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
627974012	Ectodermal dysplasia with hair-tooth-nail defects (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2019671000005115	Ektodermal dysplasi med hår-tand-negl-defekter	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)