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

SNOMED CT Concept\Clinical finding (finding)\...

\Skin AND/OR mucosa finding (finding)\Skin finding\...

\Finding of sweating\Ectodermal dysplasia with sweating defect\Ectodermal dysplasia with tooth-sweating defect\Kohlschutter's syndrome

\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with sweating defect\Ectodermal dysplasia with tooth-sweating defect\Kohlschutter's syndrome

\Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Kohlschutter's syndrome

\Central nervous system finding\Finding of brain\Seizure\Seizure disorder\Epilepsy\Kohlschutter's syndrome
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Kohlschutter's syndrome
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Kohlschutter's syndrome

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Kohlschutter's syndrome
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Kohlschutter's syndrome
\Functional finding\Finding of sweating\Ectodermal dysplasia with sweating defect\Ectodermal dysplasia with tooth-sweating defect\Kohlschutter's syndrome
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Kohlschutter's syndrome

\Neurological finding\Seizure related finding\Seizure\Seizure disorder\Epilepsy\Kohlschutter's syndrome

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

Descriptions:

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

Back to Start

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