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721085000: syndroom van doofheid, glazuurhypoplasie en nageldefect (aandoening)


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
6214291000146119 doofheid-glazuurhypoplasie-nageldefect-syndroom nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6214301000146115 syndroom van Heimler nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6215701000146117 Heimler-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6674291000146113 syndroom van doofheid, glazuurhypoplasie en nageldefect nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6674301000146112 syndroom van doofheid, glazuurhypoplasie en nageldefect (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
3323409013 This syndrome is characterized by sensorineural hearing loss, generalized enamel hypoplasia of the permanent dentition with normal primary dentition and nail defects (Beau's lines and leukonychia). Less than 10 patients have been described so far. Transmission is autosomal recessive. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3323410015 This syndrome is characterised by sensorineural hearing loss, generalised enamel hypoplasia of the permanent dentition with normal primary dentition and nail defects (Beau's lines and leukonychia). Less than 10 patients have been described so far. Transmission is autosomal recessive. 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 observatie betreffende functioneren false Inferred relationship Some
Deafness, enamel hypoplasia, nail defect syndrome (disorder) Associated morphology gebrekkige ontwikkeling (afwijkende morfologie) 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 structuur van unguis (lichaamsstructuur) 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 gebrekkige ontwikkeling (afwijkende morfologie) 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 congenitale dysplasie (afwijkende morfologie) 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 congenitale dysplasie (afwijkende morfologie) 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
Deafness, enamel hypoplasia, nail defect syndrome (disorder) Is a Congenital hearing loss (disorder) false Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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