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109478007: syndroom van epilepsie, verstandelijke beperking en amelogenesis imperfecta (aandoening)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
174054016 Kohlschutter's syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
174055015 Epilepsy, dementia and amelogenesis imperfecta en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
174056019 Epilepsy, mental deterioration and yellow teeth en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
612389018 Kohlschutter's syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
1219485011 Amelocerebrohypohidrotic syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
1219486012 Kohlschutter syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
524511000146113 syndroom van Kohlschutter-Tonz nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
12577331000146117 syndroom van epilepsie, verstandelijke beperking en amelogenesis imperfecta (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
12577341000146113 syndroom van epilepsie, mentale retardatie en amelogenesis imperfecta nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
12577351000146111 syndroom van epilepsie, verstandelijke beperking en amelogenesis imperfecta nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
12577361000146114 syndroom van epilepsie, verstandelijke handicap en amelogenesis imperfecta nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
12582431000146115 Kohlschutter-Tonz-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
3035221017 Amelogenesis imperfecta, intellectual disability, and epileptic seizures. 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
Kohlschutter's syndrome Is a Congenital anomaly of digestive system false Inferred relationship Some
Kohlschutter's syndrome Is a Disorder of skin AND/OR subcutaneous tissue of head (disorder) false Inferred relationship Some
Kohlschutter's syndrome Is a Amelogenesis imperfecta (disorder) true Inferred relationship Some
Kohlschutter's syndrome Is a Congenital anomaly of face false Inferred relationship Some
Kohlschutter's syndrome Is a Ear, face and neck congenital anomalies false Inferred relationship Some
Kohlschutter's syndrome Is a Congenital anomaly of respiratory system false Inferred relationship Some
Kohlschutter's syndrome Is a Epilepsy true Inferred relationship Some
Kohlschutter's syndrome Is a mentale retardatie false Inferred relationship Some
Kohlschutter's syndrome Is a Ectodermal dysplasia with tooth-sweating defect true Inferred relationship Some
Kohlschutter's syndrome Finding site Jaw region structure false Inferred relationship Some
Kohlschutter's syndrome Occurrence Congenital false Inferred relationship Some
Kohlschutter's syndrome Associated morphology congenitale hypoplasie (afwijkende morfologie) false Inferred relationship Some 1
Kohlschutter's syndrome Associated morphology Dysplasia false Inferred relationship Some 1
Kohlschutter's syndrome Finding site Cerebrum false Inferred relationship Some 1
Kohlschutter's syndrome Finding site Skin structure true Inferred relationship Some 3
Kohlschutter's syndrome Finding site Enamel structure false Inferred relationship Some 1
Kohlschutter's syndrome Is a Congenital anomaly of head false Inferred relationship Some
Kohlschutter's syndrome Is a Congenital anomaly of face false Inferred relationship Some
Kohlschutter's syndrome Is a Congenital malformation false Inferred relationship Some
Kohlschutter's syndrome Is a Congenital anomaly of face (disorder) false Inferred relationship Some
Kohlschutter's syndrome Has definitional manifestation Seizure false Inferred relationship Some
Kohlschutter's syndrome Is a Disorder of soft tissue of body cavity false Inferred relationship Some
Kohlschutter's syndrome Associated morphology congenitale dysplasie (afwijkende morfologie) false Inferred relationship Some 3
Kohlschutter's syndrome Associated morphology congenitale anomalie (afwijkende morfologie) false Inferred relationship Some 2
Kohlschutter's syndrome Associated morphology Hypoplasia false Inferred relationship Some 1
Kohlschutter's syndrome Finding site Enamel structure false Inferred relationship Some 1
Kohlschutter's syndrome Finding site Enamel structure true Inferred relationship Some 2
Kohlschutter's syndrome Is a Disorder of soft tissue of body cavity false Inferred relationship Some
Kohlschutter's syndrome Is a Hereditary disorder of nervous system true Inferred relationship Some
Kohlschutter's syndrome Is a Hereditary disorder of the integument true Inferred relationship Some
Kohlschutter's syndrome Occurrence Congenital true Inferred relationship Some 4
Kohlschutter's syndrome Associated morphology gebrekkige ontwikkeling (afwijkende morfologie) false Inferred relationship Some 4
Kohlschutter's syndrome Finding site Skin structure false Inferred relationship Some 4
Kohlschutter's syndrome Occurrence Congenital false Inferred relationship Some 5
Kohlschutter's syndrome Associated morphology gebrekkige ontwikkeling (afwijkende morfologie) false Inferred relationship Some 5
Kohlschutter's syndrome Finding site Structure of hard tissue of tooth false Inferred relationship Some 5
Kohlschutter's syndrome Occurrence Congenital false Inferred relationship Some 1
Kohlschutter's syndrome Associated morphology congenitale dysplasie (afwijkende morfologie) false Inferred relationship Some 1
Kohlschutter's syndrome Finding site Ectoderm structure false Inferred relationship Some 1
Kohlschutter's syndrome Is a Intellectual disability true Inferred relationship Some
Kohlschutter's syndrome Finding site Structure of hard tissue of tooth false Inferred relationship Some 1
Kohlschutter's syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Kohlschutter's syndrome Occurrence Congenital true Inferred relationship Some 3
Kohlschutter's syndrome Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 2
Kohlschutter's syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Kohlschutter's syndrome Associated morphology Morphologically abnormal structure (morphologic abnormality) false Inferred relationship Some 1
Kohlschutter's syndrome Pathological process (attribute) Pathological developmental process false Inferred relationship Some 1
Kohlschutter's syndrome Occurrence Congenital true Inferred relationship Some 2
Kohlschutter's syndrome Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 3
Kohlschutter's syndrome Finding site Ectoderm structure false Inferred relationship Some 2
Kohlschutter's syndrome Associated morphology congenitale dysplasie (afwijkende morfologie) false Inferred relationship Some 2
Kohlschutter's syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
Kohlschutter's syndrome Associated morphology Dysplasia true Inferred relationship Some 4
Kohlschutter's syndrome Finding site Ectoderm structure true Inferred relationship Some 4
Kohlschutter's syndrome Interprets Sweating, function (observable entity) true Inferred relationship Some 5
Kohlschutter's syndrome Has interpretation Abnormal true Inferred relationship Some 5
Kohlschutter's syndrome Interprets Intellectual ability (observable entity) true Inferred relationship Some 6
Kohlschutter's syndrome Has interpretation Impaired true Inferred relationship Some 6
Kohlschutter's syndrome Interprets Adaptation behavior (observable entity) true Inferred relationship Some 7
Kohlschutter's syndrome Has interpretation Impaired true Inferred relationship Some 7
Kohlschutter's syndrome Finding site Brain structure true Inferred relationship Some 1
Kohlschutter's syndrome Is a Congenital neurological disorder (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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