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721085000: Deafness, enamel hypoplasia, nail defect syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3323406018 Deafness, enamel hypoplasia, nail defect syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3323407010 Deafness, enamel hypoplasia, nail defect syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3323408017 Heimler syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402589012 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402590015 A rare genetic disease characterised by sensorineural hearing loss, abnormalities in the secondary dentition (such as enamel hypoplasia, taurodontism, or dental overcrowding), and nail abnormalities (including leuconychia and presence of transverse ridges). Association with macular dystrophy has also been reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Deafness, enamel hypoplasia, nail defect syndrome (disorder) Is a Enamel hypoplasia true Inferred relationship Some
Deafness, enamel hypoplasia, nail defect syndrome (disorder) Is a Congenital anomaly of nail false Inferred relationship Some
Deafness, enamel hypoplasia, nail defect syndrome (disorder) Is a Sensorineural hearing loss true Inferred relationship Some
Deafness, enamel hypoplasia, nail defect syndrome (disorder) Is a Autosomal recessive hereditary disorder false Inferred relationship Some
Deafness, enamel hypoplasia, nail defect syndrome (disorder) Is a Congenital hearing disorder false Inferred relationship Some
Deafness, enamel hypoplasia, nail defect syndrome (disorder) Is a Hearing loss associated with syndrome true Inferred relationship Some
Deafness, enamel hypoplasia, nail defect syndrome (disorder) Is a Ectodermal dysplasia with tooth-nail defects true Inferred relationship Some
Deafness, enamel hypoplasia, nail defect syndrome (disorder) Is a Auditory system hereditary disorder true Inferred relationship Some
Deafness, enamel hypoplasia, nail defect syndrome (disorder) Is a Digestive system hereditary disorder (disorder) false Inferred relationship Some
Deafness, enamel hypoplasia, nail defect syndrome (disorder) Is a Hereditary disorder of the integument true Inferred relationship Some
Deafness, enamel hypoplasia, nail defect syndrome (disorder) Finding site Ear structure false Inferred relationship Some 6
Deafness, enamel hypoplasia, nail defect syndrome (disorder) Interprets Hearing true Inferred relationship Some 5
Deafness, enamel hypoplasia, nail defect syndrome (disorder) Interprets Functional observable false Inferred relationship Some
Deafness, enamel hypoplasia, nail defect syndrome (disorder) Associated morphology Developmental anomaly false Inferred relationship Some 8
Deafness, enamel hypoplasia, nail defect syndrome (disorder) Occurrence Congenital false Inferred relationship Some 8
Deafness, enamel hypoplasia, nail defect syndrome (disorder) Finding site Nail structure false Inferred relationship Some 8
Deafness, enamel hypoplasia, nail defect syndrome (disorder) Occurrence Congenital false Inferred relationship Some 10
Deafness, enamel hypoplasia, nail defect syndrome (disorder) Associated morphology Developmental anomaly false Inferred relationship Some 7
Deafness, enamel hypoplasia, nail defect syndrome (disorder) Occurrence Congenital false Inferred relationship Some 7
Deafness, enamel hypoplasia, nail defect syndrome (disorder) Associated morphology Congenital dysplasia false Inferred relationship Some 10
Deafness, enamel hypoplasia, nail defect syndrome (disorder) Finding site Ectoderm structure false Inferred relationship Some 10
Deafness, enamel hypoplasia, nail defect syndrome (disorder) Finding site Skin structure false Inferred relationship Some 7
Deafness, enamel hypoplasia, nail defect syndrome (disorder) Associated morphology Hypoplasia false Inferred relationship Some 9
Deafness, enamel hypoplasia, nail defect syndrome (disorder) Finding site Enamel structure false Inferred relationship Some 9
Deafness, enamel hypoplasia, nail defect syndrome (disorder) Associated morphology Congenital dysplasia false Inferred relationship Some 3
Deafness, enamel hypoplasia, nail defect syndrome (disorder) Occurrence Congenital true Inferred relationship Some 3
Deafness, enamel hypoplasia, nail defect syndrome (disorder) Finding site Ectoderm structure true Inferred relationship Some 3
Deafness, enamel hypoplasia, nail defect syndrome (disorder) Finding site Skin structure false Inferred relationship Some 4
Deafness, enamel hypoplasia, nail defect syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) false Inferred relationship Some 4
Deafness, enamel hypoplasia, nail defect syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Deafness, enamel hypoplasia, nail defect syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Deafness, enamel hypoplasia, nail defect syndrome (disorder) Pathological process (attribute) Pathological developmental process false Inferred relationship Some 4
Deafness, enamel hypoplasia, nail defect syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Deafness, enamel hypoplasia, nail defect syndrome (disorder) Occurrence Congenital false Inferred relationship Some 4
Deafness, enamel hypoplasia, nail defect syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Deafness, enamel hypoplasia, nail defect syndrome (disorder) Finding site Enamel structure false Inferred relationship Some 1
Deafness, enamel hypoplasia, nail defect syndrome (disorder) Associated morphology Hypoplasia false Inferred relationship Some 1
Deafness, enamel hypoplasia, nail defect syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 2
Deafness, enamel hypoplasia, nail defect syndrome (disorder) Finding site Nail unit structure true Inferred relationship Some 2
Deafness, enamel hypoplasia, nail defect syndrome (disorder) Associated morphology Dysplasia true Inferred relationship Some 3
Deafness, enamel hypoplasia, nail defect syndrome (disorder) Is a Genetic disorder of nail (disorder) true Inferred relationship Some
Deafness, enamel hypoplasia, nail defect syndrome (disorder) Occurrence Congenital false Inferred relationship Some 6
Deafness, enamel hypoplasia, nail defect syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) false Inferred relationship Some 6
Deafness, enamel hypoplasia, nail defect syndrome (disorder) Finding site Structure of auditory system (body structure) true Inferred relationship Some 7
Deafness, enamel hypoplasia, nail defect syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 6
Deafness, enamel hypoplasia, nail defect syndrome (disorder) Finding site Tooth structure false Inferred relationship Some 6
Deafness, enamel hypoplasia, nail defect syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Deafness, enamel hypoplasia, nail defect syndrome (disorder) Is a Hereditary disorder of tooth true Inferred relationship Some
Deafness, enamel hypoplasia, nail defect syndrome (disorder) Is a Decreased hearing (finding) true Inferred relationship Some
Deafness, enamel hypoplasia, nail defect syndrome (disorder) Is a Peroxisome biogenesis disorder true Inferred relationship Some
Deafness, enamel hypoplasia, nail defect syndrome (disorder) Has interpretation Decreased true Inferred relationship Some 5
Deafness, enamel hypoplasia, nail defect syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Deafness, enamel hypoplasia, nail defect syndrome (disorder) Finding site Tooth structure true Inferred relationship Some 1
Deafness, enamel hypoplasia, nail defect syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 1
Deafness, enamel hypoplasia, nail defect syndrome (disorder) Finding site Enamel structure true Inferred relationship Some 6
Deafness, enamel hypoplasia, nail defect syndrome (disorder) Associated morphology Hypoplasia true Inferred relationship Some 6

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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