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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
358225014 Ectodermal dysplasia with tooth-nail defects en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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
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 Existential restriction modifier (core metadata concept)
Ectodermal dysplasia with tooth-nail defects Associated morphology Dysplasia true Inferred relationship Existential restriction modifier (core metadata concept) 1
Ectodermal dysplasia with tooth-nail defects Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
Ectodermal dysplasia with tooth-nail defects Finding site Skin structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Ectodermal dysplasia with tooth-nail defects Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept)
Ectodermal dysplasia with tooth-nail defects Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 1
Ectodermal dysplasia with tooth-nail defects Finding site Skin structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Ectodermal dysplasia with tooth-nail defects Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 1
Ectodermal dysplasia with tooth-nail defects Finding site Skin structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Ectodermal dysplasia with tooth-nail defects Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 2
Ectodermal dysplasia with tooth-nail defects Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 2
Ectodermal dysplasia with tooth-nail defects Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Ectodermal dysplasia with tooth-nail defects Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 3
Ectodermal dysplasia with tooth-nail defects Finding site Ectoderm structure false Inferred relationship Existential restriction modifier (core metadata concept) 3
Ectodermal dysplasia with tooth-nail defects Pathological process (attribute) Pathological developmental process (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 2
Ectodermal dysplasia with tooth-nail defects Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Ectodermal dysplasia with tooth-nail defects Associated morphology Morphologically abnormal structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Ectodermal dysplasia with tooth-nail defects Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Ectodermal dysplasia with tooth-nail defects Finding site Ectoderm structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Ectodermal dysplasia with tooth-nail defects Finding site Nail unit structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Ectodermal dysplasia with tooth-nail defects Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 4
Ectodermal dysplasia with tooth-nail defects Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Ectodermal dysplasia with tooth-nail defects Is a Congenital anomaly of tooth (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Ectodermal dysplasia with tooth-nail defects Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Ectodermal dysplasia with tooth-nail defects Finding site Tooth structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
Ectodermal dysplasia with tooth-nail defects Is a Ectodermal dysplasia with nail defect true Inferred relationship Existential restriction modifier (core metadata concept)
Ectodermal dysplasia with tooth-nail defects Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 4
Ectodermal dysplasia with tooth-nail defects Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 3

Inbound Relationships Type Active Source Characteristic Refinability Group
syndrome dento-oculocutané Is a False Ectodermal dysplasia with tooth-nail defects Inferred relationship Existential restriction modifier (core metadata concept)
Curry-Hall syndrome Is a True Ectodermal dysplasia with tooth-nail defects Inferred relationship Existential restriction modifier (core metadata concept)
Robinson nail dystrophy-deafness syndrome Is a True Ectodermal dysplasia with tooth-nail defects Inferred relationship Existential restriction modifier (core metadata concept)
Odontomicronychial ectodermal dysplasia Is a True Ectodermal dysplasia with tooth-nail defects Inferred relationship Existential restriction modifier (core metadata concept)
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) Is a True Ectodermal dysplasia with tooth-nail defects Inferred relationship Existential restriction modifier (core metadata concept)
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 Existential restriction modifier (core metadata concept)
Dermatoosteolysis Kirghizian type (disorder) Is a True Ectodermal dysplasia with tooth-nail defects Inferred relationship Existential restriction modifier (core metadata concept)
Stern Lubinsky Durrie syndrome (disorder) Is a True Ectodermal dysplasia with tooth-nail defects Inferred relationship Existential restriction modifier (core metadata concept)
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome Is a True Ectodermal dysplasia with tooth-nail defects Inferred relationship Existential restriction modifier (core metadata concept)
Ectodermal dysplasia with hair-tooth-nail defects Is a True Ectodermal dysplasia with tooth-nail defects Inferred relationship Existential restriction modifier (core metadata concept)
Ectodermal dysplasia with tooth-nail-sweating defect Is a True Ectodermal dysplasia with tooth-nail defects Inferred relationship Existential restriction modifier (core metadata concept)
Hypodontia and nail dysgenesis Is a True Ectodermal dysplasia with tooth-nail defects Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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