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109478007: Kohlschutter's syndrome (disorder)

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
3035221017 Amelogenesis imperfecta, intellectual disability, and epileptic seizures. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
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 Only initial character case insensitive (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 Only initial character 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 Only initial character 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 Only initial character case insensitive (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 Only initial character case insensitive (core metadata concept) SNOMED CT core
1219486012 Kohlschutter 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
2884617019 Ameliogenesis imperfecta, mental retardation, and epileptic seizures en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3035221017 Amelogenesis imperfecta, intellectual disability, and epileptic seizures. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3431061001000111 Amelo-zerebro-hypohidrotisches Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6330431000241112 syndrome amélocérébrohypohidrotique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6330441000241119 syndrome de Kohlschütter fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6330451000241116 syndrome de Kohlschütter-Tönz fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6330431000241112 syndrome amélocérébrohypohidrotique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6330441000241119 syndrome de Kohlschütter fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6330451000241116 syndrome de Kohlschütter-Tönz fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3431061001000111 Amelo-zerebro-hypohidrotisches Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Amelogenesis imperfecta, intellectual disability, and epileptic seizures. Is a Congenital anomaly of digestive system false Inferred relationship Existential restriction modifier (core metadata concept)
Amelogenesis imperfecta, intellectual disability, and epileptic seizures. Is a Disorder of skin AND/OR subcutaneous tissue of head (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Amelogenesis imperfecta, intellectual disability, and epileptic seizures. Is a Amelogenesis imperfecta (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Amelogenesis imperfecta, intellectual disability, and epileptic seizures. Is a Congenital anomaly of face false Inferred relationship Existential restriction modifier (core metadata concept)
Amelogenesis imperfecta, intellectual disability, and epileptic seizures. Is a Ear, face and neck congenital anomalies (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Amelogenesis imperfecta, intellectual disability, and epileptic seizures. Is a anomalie congénitale de l'appareil respiratoire false Inferred relationship Existential restriction modifier (core metadata concept)
Amelogenesis imperfecta, intellectual disability, and epileptic seizures. Is a Epilepsy true Inferred relationship Existential restriction modifier (core metadata concept)
Amelogenesis imperfecta, intellectual disability, and epileptic seizures. Is a retard mental false Inferred relationship Existential restriction modifier (core metadata concept)
Amelogenesis imperfecta, intellectual disability, and epileptic seizures. Is a Ectodermal dysplasia with tooth-sweating defect true Inferred relationship Existential restriction modifier (core metadata concept)
Amelogenesis imperfecta, intellectual disability, and epileptic seizures. Finding site Jaw region structure false Inferred relationship Existential restriction modifier (core metadata concept)
Amelogenesis imperfecta, intellectual disability, and epileptic seizures. Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
Amelogenesis imperfecta, intellectual disability, and epileptic seizures. Associated morphology Congenital hypoplasia false Inferred relationship Existential restriction modifier (core metadata concept) 1
Amelogenesis imperfecta, intellectual disability, and epileptic seizures. Associated morphology Dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 1
Amelogenesis imperfecta, intellectual disability, and epileptic seizures. Finding site The cerebrum is the regional structure of the brain, which is the adult equivalent of the forebrain or prosencephalon. It is constituted by the structural derivatives of the telencephalon and diencephalon including the cerebral hemispheres, epithalamus, thalamus, hypothalamus, lateral ventricles and third ventricle. This definition is harmonious with the Federation of Association of Anatomist Second Edition (2019) Part V Terminologia Anatomica. false Inferred relationship Existential restriction modifier (core metadata concept) 1
Amelogenesis imperfecta, intellectual disability, and epileptic seizures. Finding site Skin structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
Amelogenesis imperfecta, intellectual disability, and epileptic seizures. Finding site Enamel structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 1
Amelogenesis imperfecta, intellectual disability, and epileptic seizures. Is a Congenital anomaly of head false Inferred relationship Existential restriction modifier (core metadata concept)
Amelogenesis imperfecta, intellectual disability, and epileptic seizures. Is a Congenital anomaly of face false Inferred relationship Existential restriction modifier (core metadata concept)
Amelogenesis imperfecta, intellectual disability, and epileptic seizures. Is a Congenital malformation false Inferred relationship Existential restriction modifier (core metadata concept)
Amelogenesis imperfecta, intellectual disability, and epileptic seizures. Is a Congenital anomaly of face (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Amelogenesis imperfecta, intellectual disability, and epileptic seizures. Has definitional manifestation Seizure false Inferred relationship Existential restriction modifier (core metadata concept)
Amelogenesis imperfecta, intellectual disability, and epileptic seizures. Is a Disorder of soft tissue of body cavity false Inferred relationship Existential restriction modifier (core metadata concept)
Amelogenesis imperfecta, intellectual disability, and epileptic seizures. Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 3
Amelogenesis imperfecta, intellectual disability, and epileptic seizures. Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 2
Amelogenesis imperfecta, intellectual disability, and epileptic seizures. Associated morphology Hypoplasia false Inferred relationship Existential restriction modifier (core metadata concept) 1
Amelogenesis imperfecta, intellectual disability, and epileptic seizures. Finding site Enamel structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 1
Amelogenesis imperfecta, intellectual disability, and epileptic seizures. Finding site Enamel structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Amelogenesis imperfecta, intellectual disability, and epileptic seizures. Is a Disorder of soft tissue of body cavity false Inferred relationship Existential restriction modifier (core metadata concept)
Amelogenesis imperfecta, intellectual disability, and epileptic seizures. Is a Hereditary disorder of nervous system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Amelogenesis imperfecta, intellectual disability, and epileptic seizures. Is a Hereditary disorder of the integument (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Amelogenesis imperfecta, intellectual disability, and epileptic seizures. Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 4
Amelogenesis imperfecta, intellectual disability, and epileptic seizures. Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 4
Amelogenesis imperfecta, intellectual disability, and epileptic seizures. Finding site Skin structure false Inferred relationship Existential restriction modifier (core metadata concept) 4
Amelogenesis imperfecta, intellectual disability, and epileptic seizures. Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 5
Amelogenesis imperfecta, intellectual disability, and epileptic seizures. Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 5
Amelogenesis imperfecta, intellectual disability, and epileptic seizures. Finding site Structure of hard tissue of tooth false Inferred relationship Existential restriction modifier (core metadata concept) 5
Amelogenesis imperfecta, intellectual disability, and epileptic seizures. Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 1
Amelogenesis imperfecta, intellectual disability, and epileptic seizures. Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 1
Amelogenesis imperfecta, intellectual disability, and epileptic seizures. Finding site Ectoderm structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Amelogenesis imperfecta, intellectual disability, and epileptic seizures. Is a Intelligenzminderung true Inferred relationship Existential restriction modifier (core metadata concept)
Amelogenesis imperfecta, intellectual disability, and epileptic seizures. Finding site Structure of hard tissue of tooth false Inferred relationship Existential restriction modifier (core metadata concept) 1
Amelogenesis imperfecta, intellectual disability, and epileptic seizures. Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Amelogenesis imperfecta, intellectual disability, and epileptic seizures. Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Amelogenesis imperfecta, intellectual disability, and epileptic seizures. Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Amelogenesis imperfecta, intellectual disability, and epileptic seizures. Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Amelogenesis imperfecta, intellectual disability, and epileptic seizures. Associated morphology Morphologically abnormal structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Amelogenesis imperfecta, intellectual disability, and epileptic seizures. Pathological process (attribute) Pathological developmental process (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 1
Amelogenesis imperfecta, intellectual disability, and epileptic seizures. Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Amelogenesis imperfecta, intellectual disability, and epileptic seizures. Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
Amelogenesis imperfecta, intellectual disability, and epileptic seizures. Finding site Ectoderm structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Amelogenesis imperfecta, intellectual disability, and epileptic seizures. Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 2
Amelogenesis imperfecta, intellectual disability, and epileptic seizures. Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Amelogenesis imperfecta, intellectual disability, and epileptic seizures. Associated morphology Dysplasia true Inferred relationship Existential restriction modifier (core metadata concept) 4
Amelogenesis imperfecta, intellectual disability, and epileptic seizures. Finding site Ectoderm structure true Inferred relationship Existential restriction modifier (core metadata concept) 4
Amelogenesis imperfecta, intellectual disability, and epileptic seizures. Interprets Sweating, function (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept) 5
Amelogenesis imperfecta, intellectual disability, and epileptic seizures. Has interpretation Abnormal true Inferred relationship Existential restriction modifier (core metadata concept) 5
Amelogenesis imperfecta, intellectual disability, and epileptic seizures. Interprets Intellectual ability (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept) 6
Amelogenesis imperfecta, intellectual disability, and epileptic seizures. Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 6
Amelogenesis imperfecta, intellectual disability, and epileptic seizures. Interprets Adaptation behavior true Inferred relationship Existential restriction modifier (core metadata concept) 7
Amelogenesis imperfecta, intellectual disability, and epileptic seizures. Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 7
Amelogenesis imperfecta, intellectual disability, and epileptic seizures. Finding site Brain structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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