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239046007: Ectodermal dysplasia with nail defect (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
358233010 Ectodermal dysplasia with nail defect en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
628010011 Ectodermal dysplasia with nail defect (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
80521000077115 dysplasie ectodermique avec anomalie de l'ongle fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


61 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Ectodermal dysplasia with nail defect Is a Ectodermal dysplasia true Inferred relationship Some
Ectodermal dysplasia with nail defect Finding site Nail structure false Inferred relationship Some 1
Ectodermal dysplasia with nail defect Associated morphology Dysplasia true Inferred relationship Some 3
Ectodermal dysplasia with nail defect Occurrence Congenital false Inferred relationship Some
Ectodermal dysplasia with nail defect Finding site Skin structure false Inferred relationship Some 1
Ectodermal dysplasia with nail defect Is a Nail deformity false Inferred relationship Some
Ectodermal dysplasia with nail defect Associated morphology anomalie congénitale false Inferred relationship Some
Ectodermal dysplasia with nail defect Finding site Nail structure false Inferred relationship Some 2
Ectodermal dysplasia with nail defect Associated morphology Dysplasia false Inferred relationship Some 1
Ectodermal dysplasia with nail defect Finding site Skin structure false Inferred relationship Some 1
Ectodermal dysplasia with nail defect Associated morphology Deformity false Inferred relationship Some 3
Ectodermal dysplasia with nail defect Finding site Nail structure false Inferred relationship Some 1
Ectodermal dysplasia with nail defect Associated morphology Dysplasia false Inferred relationship Some 1
Ectodermal dysplasia with nail defect Finding site Nail structure false Inferred relationship Some 2
Ectodermal dysplasia with nail defect Is a Disorder of soft tissue of limb false Inferred relationship Some
Ectodermal dysplasia with nail defect Associated morphology Congenital dysplasia false Inferred relationship Some 1
Ectodermal dysplasia with nail defect Finding site Nail structure false Inferred relationship Some 1
Ectodermal dysplasia with nail defect Finding site Nail structure false Inferred relationship Some 3
Ectodermal dysplasia with nail defect Finding site Nail structure false Inferred relationship Some 2
Ectodermal dysplasia with nail defect Finding site Nail structure false Inferred relationship Some 1
Ectodermal dysplasia with nail defect Finding site Nail structure false Inferred relationship Some 1
Ectodermal dysplasia with nail defect Finding site Nail structure false Inferred relationship Some 2
Ectodermal dysplasia with nail defect Finding site Nail structure false Inferred relationship Some 1
Ectodermal dysplasia with nail defect Finding site Nail structure false Inferred relationship Some 2
Ectodermal dysplasia with nail defect Finding site Nail structure false Inferred relationship Some 1
Ectodermal dysplasia with nail defect Finding site Nail structure false Inferred relationship Some 3
Ectodermal dysplasia with nail defect Is a Disorder of nail (disorder) false Inferred relationship Some
Ectodermal dysplasia with nail defect Finding site Nail structure false Inferred relationship Some
Ectodermal dysplasia with nail defect Finding site Skin structure false Inferred relationship Some 2
Ectodermal dysplasia with nail defect Occurrence Congenital false Inferred relationship Some 2
Ectodermal dysplasia with nail defect Associated morphology anomalie du développement false Inferred relationship Some 2
Ectodermal dysplasia with nail defect Occurrence Congenital true Inferred relationship Some 3
Ectodermal dysplasia with nail defect Associated morphology Congenital dysplasia false Inferred relationship Some 3
Ectodermal dysplasia with nail defect Finding site Ectoderm structure true Inferred relationship Some 3
Ectodermal dysplasia with nail defect Associated morphology Morphologically abnormal structure false Inferred relationship Some 2
Ectodermal dysplasia with nail defect Pathological process (attribute) Pathological developmental process false Inferred relationship Some 2
Ectodermal dysplasia with nail defect Finding site Ectoderm structure false Inferred relationship Some 1
Ectodermal dysplasia with nail defect Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Ectodermal dysplasia with nail defect Occurrence Congenital true Inferred relationship Some 1
Ectodermal dysplasia with nail defect Finding site Skin appendage structure (body structure) false Inferred relationship Some
Ectodermal dysplasia with nail defect 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 1
Ectodermal dysplasia with nail defect Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Ectodermal dysplasia with nail defect Associated morphology Morphologically abnormal structure true Inferred relationship Some 1
Ectodermal dysplasia with nail defect Is a Congenital anomaly of nail true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
Triphalangeal thumbs with onychodystrophy Is a False Ectodermal dysplasia with nail defect Inferred relationship Some
Laryngo-onychocutaneous syndrome Is a False Ectodermal dysplasia with nail defect Inferred relationship Some
Acrocephalosyndactyly type V (disorder) Is a False Ectodermal dysplasia with nail defect Inferred relationship Some
A rare multiple congenital anomalies-intellectual disability syndrome characterized by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures. Is a False Ectodermal dysplasia with nail defect Inferred relationship Some
Deafness-onychodystrophy syndrome is a group of rare, genetic, developmental defect during embryogenesis disorders characterized by the association of sensorineural deafness and onychodystrophy (e.g. absent/hypoplastic finger and toenails), as well as brachydactyly and finger-like thumbs. Additional features present in one of the diseases comprising this group include osteodystrophy, intellectual disability, seizures, developmental delay, and distinctive facies. Is a True Ectodermal dysplasia with nail defect Inferred relationship Some
Ectodermal dysplasia with hair-nail defect Is a True Ectodermal dysplasia with nail defect Inferred relationship Some
Ectodermal dysplasia with tooth-nail defects Is a True Ectodermal dysplasia with nail defect Inferred relationship Some

This concept is not in any reference sets

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