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239040001: Ectodermal dysplasia with 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
358225014 Ectodermal dysplasia with tooth-nail defects en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
628002010 Ectodermal dysplasia with tooth-nail defects (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5026851000241117 dysplasie ectodermique avec déficit de dents-ongles fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


48 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Ectodermal dysplasia with tooth-nail defects Is a Ectodermal dysplasia false Inferred relationship Some
Ectodermal dysplasia with tooth-nail defects Associated morphology Dysplasia true Inferred relationship Some 1
Ectodermal dysplasia with tooth-nail defects Occurrence Congenital false Inferred relationship Some
Ectodermal dysplasia with tooth-nail defects Finding site Skin structure false Inferred relationship Some 1
Ectodermal dysplasia with tooth-nail defects Associated morphology anomalie congénitale false Inferred relationship Some
Ectodermal dysplasia with tooth-nail defects Associated morphology Congenital dysplasia false Inferred relationship Some 1
Ectodermal dysplasia with tooth-nail defects Finding site Skin structure false Inferred relationship Some 1
Ectodermal dysplasia with tooth-nail defects Associated morphology Congenital dysplasia false Inferred relationship Some 1
Ectodermal dysplasia with tooth-nail defects Finding site Skin structure false Inferred relationship Some 2
Ectodermal dysplasia with tooth-nail defects Occurrence Congenital false Inferred relationship Some 2
Ectodermal dysplasia with tooth-nail defects Associated morphology anomalie du développement false Inferred relationship Some 2
Ectodermal dysplasia with tooth-nail defects Occurrence Congenital true Inferred relationship Some 3
Ectodermal dysplasia with tooth-nail defects Associated morphology Congenital dysplasia false Inferred relationship Some 3
Ectodermal dysplasia with tooth-nail defects Finding site Ectoderm structure false Inferred relationship Some 3
Ectodermal dysplasia with tooth-nail defects Pathological process (attribute) Pathological developmental process false Inferred relationship Some 2
Ectodermal dysplasia with tooth-nail defects Occurrence Congenital true Inferred relationship Some 1
Ectodermal dysplasia with tooth-nail defects Associated morphology Morphologically abnormal structure false Inferred relationship Some 2
Ectodermal dysplasia with tooth-nail defects Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Ectodermal dysplasia with tooth-nail defects Finding site Ectoderm structure true Inferred relationship Some 1
Ectodermal dysplasia with 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 tooth-nail defects Occurrence Congenital true Inferred relationship Some 4
Ectodermal dysplasia with tooth-nail defects Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Ectodermal dysplasia with tooth-nail defects Is a Congenital anomaly of tooth (disorder) true Inferred relationship Some
Ectodermal dysplasia with tooth-nail defects Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
Ectodermal dysplasia with tooth-nail defects Finding site Tooth structure true Inferred relationship Some 3
Ectodermal dysplasia with tooth-nail defects Is a Ectodermal dysplasia with nail defect true Inferred relationship Some
Ectodermal dysplasia with tooth-nail defects Associated morphology Morphologically abnormal structure true Inferred relationship Some 4
Ectodermal dysplasia with tooth-nail defects Associated morphology Morphologically abnormal structure true Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group
syndrome dento-oculocutané Is a False Ectodermal dysplasia with tooth-nail defects Inferred relationship Some
Curry-Hall syndrome Is a True Ectodermal dysplasia with tooth-nail defects Inferred relationship Some
Robinson nail dystrophy-deafness syndrome Is a True Ectodermal dysplasia with tooth-nail defects Inferred relationship Some
Odontomicronychial ectodermal dysplasia (disorder) Is a True Ectodermal dysplasia with tooth-nail defects Inferred relationship Some
A rare ectodermal dysplasia syndrome characterized by ectrodactyly, syndactyly, mammary hypoplasia, and excessive freckling as well as other typical ectodermal defects such as hypodontia, lacrimal duct anomalies, hypotrichosis, and onychodysplasia. Is a True Ectodermal dysplasia with tooth-nail defects Inferred relationship Some
A rare genetic disease characterized by sensorineural hearing loss, abnormalities in the secondary dentition (such as enamel hypoplasia, taurodontism, or dental overcrowding), and nail abnormalities (including leukonychia and presence of transverse ridges). Association with macular dystrophy has also been reported. Is a True Ectodermal dysplasia with tooth-nail defects Inferred relationship Some
A rare genetic disease characterized by infantile onset of recurrent skin ulcerations, arthralgias, fever, peri-articular fistulous osteolysis, oligodontia, nail dystrophy, and keratitis. The disease takes a self-limiting course in childhood but results in severe cicatrization, chronic arthroses, pseudoacromegalic appearance of hands and feet, secondary scoliosis, and visual impairment. There have been no further descriptions in the literature since 1983. Is a True Ectodermal dysplasia with tooth-nail defects Inferred relationship Some
A rare, genetic, ectodermal dysplasia syndrome characterized by corneal epithelial changes (ranging from roughening to nodular irregularities), diffuse palmoplantar hyperkeratosis with thickened, erythematous, scaly lesions affecting the elbows, knees and knuckles, distal onycholysis, brachydactyly accompanied by a single transverse palmar crease, short stature, premature birth, and increased susceptibility to tooth decay. Ocular symptoms include photophobia, reduced night vision, burning and watery eyes, and varying visual acuity. There have been no further descriptions in the literature since 1984. Is a True Ectodermal dysplasia with tooth-nail defects Inferred relationship Some
Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome is a rare genetic ectodermal dysplasia syndrome characterized by short stature, nail dystrophy and/or nail loss, oral mucosa and/or tongue hyperpigmentation, dentition abnormalities (delayed teeth eruption, hypodontia, enamel hypoplasia), keratoderma on the margins of the palms and soles and focal hyperkeratosis on the dorsum of the hands and feet. Additionally, dysphagia with esophageal strictures, sensorineural deafness, bronchial asthma and severe iron-deficiency anemia have been observed. Is a True Ectodermal dysplasia with tooth-nail defects Inferred relationship Some
Ectodermal dysplasia with hair-tooth-nail defects (disorder) Is a True Ectodermal dysplasia with tooth-nail defects Inferred relationship Some
Ectodermal dysplasia with tooth-nail-sweating defect (disorder) Is a True Ectodermal dysplasia with tooth-nail defects Inferred relationship Some
Hypodontia and nail dysgenesis Is a True Ectodermal dysplasia with tooth-nail defects Inferred relationship Some

This concept is not in any reference sets

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