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

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2020. Module: SNOMED CT core

Descriptions:

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
5026591000241112 dysplasie ectodermique avec déficit de cheveux-ongles-dents fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

36 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Ectodermal dysplasia with hair-tooth-nail defects (disorder) Is a Ectodermal dysplasia false Inferred relationship Some
Ectodermal dysplasia with hair-tooth-nail defects (disorder) Associated morphology Dysplasia true Inferred relationship Some 1
Ectodermal dysplasia with hair-tooth-nail defects (disorder) Finding site Skin structure false Inferred relationship Some 1
Ectodermal dysplasia with hair-tooth-nail defects (disorder) Occurrence Congenital false Inferred relationship Some
Ectodermal dysplasia with hair-tooth-nail defects (disorder) Associated morphology anomalie congénitale false Inferred relationship Some
Ectodermal dysplasia with hair-tooth-nail defects (disorder) Associated morphology Congenital dysplasia false Inferred relationship Some 1
Ectodermal dysplasia with hair-tooth-nail defects (disorder) Finding site Skin structure false Inferred relationship Some 1
Ectodermal dysplasia with hair-tooth-nail defects (disorder) Associated morphology Congenital dysplasia false Inferred relationship Some 1
Ectodermal dysplasia with hair-tooth-nail defects (disorder) Finding site Skin structure false Inferred relationship Some 2
Ectodermal dysplasia with hair-tooth-nail defects (disorder) Occurrence Congenital true Inferred relationship Some 2
Ectodermal dysplasia with hair-tooth-nail defects (disorder) Associated morphology anomalie du développement false Inferred relationship Some 2
Ectodermal dysplasia with hair-tooth-nail defects (disorder) Occurrence Congenital true Inferred relationship Some 3
Ectodermal dysplasia with hair-tooth-nail defects (disorder) Associated morphology Congenital dysplasia false Inferred relationship Some 3
Ectodermal dysplasia with hair-tooth-nail defects (disorder) Finding site Ectoderm structure false Inferred relationship Some 3
Ectodermal dysplasia with hair-tooth-nail defects (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Ectodermal dysplasia with hair-tooth-nail defects (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Ectodermal dysplasia with hair-tooth-nail defects (disorder) Finding site Ectoderm structure true Inferred relationship Some 1
Ectodermal dysplasia with hair-tooth-nail defects (disorder) Associated morphology Morphologically abnormal structure true Inferred relationship Some 2
Ectodermal dysplasia with hair-tooth-nail defects (disorder) Occurrence Congenital true Inferred relationship Some 1
Ectodermal dysplasia with hair-tooth-nail defects (disorder) Finding site Tooth structure true Inferred relationship Some 2
Ectodermal dysplasia with hair-tooth-nail defects (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Ectodermal dysplasia with hair-tooth-nail defects (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
Ectodermal dysplasia with hair-tooth-nail defects (disorder) Associated morphology Morphologically abnormal structure true Inferred relationship Some 4
Ectodermal dysplasia with hair-tooth-nail defects (disorder) Is a Ectodermal dysplasia with hair-tooth defects true Inferred relationship Some
Ectodermal dysplasia with hair-tooth-nail defects (disorder) Associated morphology Morphologically abnormal structure true Inferred relationship Some 3
Ectodermal dysplasia with hair-tooth-nail defects (disorder) Is a Ectodermal dysplasia with hair-nail defect true Inferred relationship Some
Ectodermal dysplasia with hair-tooth-nail defects (disorder) Is a Ectodermal dysplasia with tooth-nail defects true Inferred relationship Some
Ectodermal dysplasia with hair-tooth-nail defects (disorder) 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 (disorder) Finding site Hair structure (body structure) true Inferred relationship Some 3
Ectodermal dysplasia with hair-tooth-nail defects (disorder) 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 (disorder) Inferred relationship Some
syndrome de Schoef-Schulz-Passage Is a False Ectodermal dysplasia with hair-tooth-nail defects (disorder) Inferred relationship Some
Odonto-onychial dysplasia with alopecia Is a True Ectodermal dysplasia with hair-tooth-nail defects (disorder) Inferred relationship Some
Fried's tooth and nail syndrome Is a True Ectodermal dysplasia with hair-tooth-nail defects (disorder) Inferred relationship Some
Hypodontia and nail dysgenesis Is a False Ectodermal dysplasia with hair-tooth-nail defects (disorder) Inferred relationship Some
dysplasie dermodentaire Is a False Ectodermal dysplasia with hair-tooth-nail defects (disorder) Inferred relationship Some
Salamon's syndrome Is a True Ectodermal dysplasia with hair-tooth-nail defects (disorder) Inferred relationship Some
Ectodermal dysplasia, syndactyly and pili torti Is a True Ectodermal dysplasia with hair-tooth-nail defects (disorder) Inferred relationship Some
Dwarfism, alopecia, pseudoanodontia, cutis laxa Is a True Ectodermal dysplasia with hair-tooth-nail defects (disorder) Inferred relationship Some
Trichorhinophalangeal syndrome Is a False Ectodermal dysplasia with hair-tooth-nail defects (disorder) Inferred relationship Some
Schinzel-Giedion syndrome Is a True Ectodermal dysplasia with hair-tooth-nail defects (disorder) Inferred relationship Some
Tricho-dento-osseous syndrome Is a True Ectodermal dysplasia with hair-tooth-nail defects (disorder) Inferred relationship Some
Hidrotic ectodermal dysplasia syndrome Is a False Ectodermal dysplasia with hair-tooth-nail defects (disorder) Inferred relationship Some
Chondroectodermal dysplasia Is a True Ectodermal dysplasia with hair-tooth-nail defects (disorder) Inferred relationship Some
Odonto-onycho-dermal dysplasia (disorder) Is a True Ectodermal dysplasia with hair-tooth-nail defects (disorder) 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 (disorder) 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 (disorder) 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 (disorder) 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 (disorder) 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 (disorder) 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 (disorder) 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 (disorder) Inferred relationship Some
A rare, genetic developmental defect during embryogenesis syndrome characterized by 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 (disorder) Inferred relationship Some
Ectodermal dysplasia with hair-tooth-nail-sweating defect Is a True Ectodermal dysplasia with hair-tooth-nail defects (disorder) Inferred relationship Some
Incontinentia pigmenti syndrome Is a True Ectodermal dysplasia with hair-tooth-nail defects (disorder) 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 (disorder) Inferred relationship Some
Hypohidrosis-diabetes insipidus syndrome Is a True Ectodermal dysplasia with hair-tooth-nail defects (disorder) Inferred relationship Some
Schöpf-Schulz-Passarge syndrome Is a True Ectodermal dysplasia with hair-tooth-nail defects (disorder) Inferred relationship Some

This concept is not in any reference sets

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