109478007: Kohlschutter's syndrome (disorder)

SNOMED CT Concept\constatation clinique\...

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

\constatation à propos de la sudation\Ectodermal dysplasia with sweating defect\Ectodermal dysplasia with tooth-sweating defect\Kohlschutter's syndrome

\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with sweating defect\Ectodermal dysplasia with tooth-sweating defect\Kohlschutter's syndrome

\constatation à propos du système nerveux central\constatation à propos l'encéphale\convulsion\trouble convulsif\Epilepsy\Kohlschutter's syndrome
\constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\trouble convulsif\Epilepsy\Kohlschutter's syndrome
\constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\trouble convulsif\Epilepsy\Kohlschutter's syndrome

\constatation à propos d'une région de la tête et du cou\Head finding (finding)\...

\constatation à propos l'encéphale\convulsion\trouble convulsif\Epilepsy\Kohlschutter's syndrome
\constatation à propos l'encéphale\Disorder of brain (disorder)\trouble convulsif\Epilepsy\Kohlschutter's syndrome

\affection de la tête\maladie de la cavité buccale\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\Ectodermal dysplasia with tooth-sweating defect\Kohlschutter's syndrome
\affection de la tête\maladie de la cavité buccale\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\Amelogenesis imperfecta\Kohlschutter's syndrome
\affection de la tête\maladie de la cavité buccale\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Hereditary disorder of tooth\Amelogenesis imperfecta\Kohlschutter's syndrome
\affection de la tête\maladie de la cavité buccale\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of tooth development (disorder)\Malformation of tooth (disorder)\Congenital anomaly of tooth (disorder)\Ectodermal dysplasia with tooth-sweating defect\Kohlschutter's syndrome
\affection de la tête\maladie de la cavité buccale\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of tooth development (disorder)\Malformation of tooth (disorder)\Congenital anomaly of tooth (disorder)\Amelogenesis imperfecta\Kohlschutter's syndrome
\affection de la tête\maladie de la cavité buccale\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of hard tissues of teeth (disorder)\Amelogenesis imperfecta\Kohlschutter's syndrome
\affection de la tête\Congenital anomaly of head\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\Ectodermal dysplasia with tooth-sweating defect\Kohlschutter's syndrome
\affection de la tête\Congenital anomaly of head\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\Amelogenesis imperfecta\Kohlschutter's syndrome
\affection de la tête\Congenital anomaly of head\Congenital anomaly of jaw\Congenital anomaly of tooth (disorder)\Ectodermal dysplasia with tooth-sweating defect\Kohlschutter's syndrome
\affection de la tête\Congenital anomaly of head\Congenital anomaly of jaw\Congenital anomaly of tooth (disorder)\Amelogenesis imperfecta\Kohlschutter's syndrome
\affection de la tête\Disorder of brain (disorder)\trouble convulsif\Epilepsy\Kohlschutter's syndrome
\affection de la tête\affection de la mâchoire\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Hereditary disorder of tooth\Amelogenesis imperfecta\Kohlschutter's syndrome
\affection de la tête\affection de la mâchoire\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of tooth development (disorder)\Malformation of tooth (disorder)\Congenital anomaly of tooth (disorder)\Ectodermal dysplasia with tooth-sweating defect\Kohlschutter's syndrome
\affection de la tête\affection de la mâchoire\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of tooth development (disorder)\Malformation of tooth (disorder)\Congenital anomaly of tooth (disorder)\Amelogenesis imperfecta\Kohlschutter's syndrome
\affection de la tête\affection de la mâchoire\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of hard tissues of teeth (disorder)\Amelogenesis imperfecta\Kohlschutter's syndrome
\affection de la tête\affection de la mâchoire\Congenital anomaly of jaw\Congenital anomaly of tooth (disorder)\Ectodermal dysplasia with tooth-sweating defect\Kohlschutter's syndrome
\affection de la tête\affection de la mâchoire\Congenital anomaly of jaw\Congenital anomaly of tooth (disorder)\Amelogenesis imperfecta\Kohlschutter's syndrome

\constatation fonctionnelle\constatation à propos de la sudation\Ectodermal dysplasia with sweating defect\Ectodermal dysplasia with tooth-sweating defect\Kohlschutter's syndrome

\Neurological finding\Seizure related finding\convulsion\trouble convulsif\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	localisation d'une constatation (attribut)	Enamel structure	false	Inferred relationship	Some	1
Kohlschutter's syndrome	localisation d'une constatation (attribut)	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	survenue (attribut)	congénital	true	Inferred relationship	Some	3
Kohlschutter's syndrome	morphologie associée (attribut)	structure anormale sur le plan morphologique	true	Inferred relationship	Some	2
Kohlschutter's syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Kohlschutter's syndrome	morphologie associée (attribut)	structure anormale sur le plan morphologique	false	Inferred relationship	Some	1
Kohlschutter's syndrome	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	1
Kohlschutter's syndrome	survenue (attribut)	congénital	true	Inferred relationship	Some	2
Kohlschutter's syndrome	morphologie associée (attribut)	structure anormale sur le plan morphologique	true	Inferred relationship	Some	3
Kohlschutter's syndrome	localisation d'une constatation (attribut)	Ectoderm structure	false	Inferred relationship	Some	2
Kohlschutter's syndrome	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	2
Kohlschutter's syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	4
Kohlschutter's syndrome	morphologie associée (attribut)	dysplasie	true	Inferred relationship	Some	4
Kohlschutter's syndrome	localisation d'une constatation (attribut)	Ectoderm structure	true	Inferred relationship	Some	4
Kohlschutter's syndrome	interprète (attribut)	Sweating, function (observable entity)	true	Inferred relationship	Some	5
Kohlschutter's syndrome	a pour interprétation (attribut)	anormal	true	Inferred relationship	Some	5
Kohlschutter's syndrome	est un(e) (attribut)	Congenital anomaly of head	false	Inferred relationship	Some
Kohlschutter's syndrome	est un(e) (attribut)	Congenital anomaly of face	false	Inferred relationship	Some
Kohlschutter's syndrome	est un(e) (attribut)	Congenital malformation	false	Inferred relationship	Some
Kohlschutter's syndrome	est un(e) (attribut)	Congenital anomaly of face (disorder)	false	Inferred relationship	Some
Kohlschutter's syndrome	est défini par la manifestation de (attribut)	convulsion	false	Inferred relationship	Some
Kohlschutter's syndrome	est un(e) (attribut)	Disorder of soft tissue of body cavity	false	Inferred relationship	Some
Kohlschutter's syndrome	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	3
Kohlschutter's syndrome	est un(e) (attribut)	Congenital anomaly of digestive system	false	Inferred relationship	Some
Kohlschutter's syndrome	est un(e) (attribut)	Disorder of skin AND/OR subcutaneous tissue of head (disorder)	false	Inferred relationship	Some
Kohlschutter's syndrome	est un(e) (attribut)	Amelogenesis imperfecta	true	Inferred relationship	Some
Kohlschutter's syndrome	est un(e) (attribut)	Congenital anomaly of face	false	Inferred relationship	Some
Kohlschutter's syndrome	est un(e) (attribut)	Ear, face and neck congenital anomalies	false	Inferred relationship	Some
Kohlschutter's syndrome	est un(e) (attribut)	Congenital anomaly of respiratory system	false	Inferred relationship	Some
Kohlschutter's syndrome	est un(e) (attribut)	Epilepsy	true	Inferred relationship	Some
Kohlschutter's syndrome	est un(e) (attribut)	Mental retardation	false	Inferred relationship	Some
Kohlschutter's syndrome	est un(e) (attribut)	Ectodermal dysplasia with tooth-sweating defect	true	Inferred relationship	Some
Kohlschutter's syndrome	morphologie associée (attribut)	Congenital anomaly	false	Inferred relationship	Some	2
Kohlschutter's syndrome	morphologie associée (attribut)	Hypoplasia (morphologic abnormality)	false	Inferred relationship	Some	1
Kohlschutter's syndrome	localisation d'une constatation (attribut)	Enamel structure	false	Inferred relationship	Some	1
Kohlschutter's syndrome	localisation d'une constatation (attribut)	Enamel structure	true	Inferred relationship	Some	2
Kohlschutter's syndrome	est un(e) (attribut)	Disorder of soft tissue of body cavity	false	Inferred relationship	Some
Kohlschutter's syndrome	localisation d'une constatation (attribut)	structure de la région de la mâchoire (structure corporelle)	false	Inferred relationship	Some
Kohlschutter's syndrome	survenue (attribut)	congénital	false	Inferred relationship	Some
Kohlschutter's syndrome	morphologie associée (attribut)	Congenital hypoplasia	false	Inferred relationship	Some	1
Kohlschutter's syndrome	morphologie associée (attribut)	dysplasie	false	Inferred relationship	Some	1
Kohlschutter's syndrome	localisation d'une constatation (attribut)	structure du cerveau	true	Inferred relationship	Some	1
Kohlschutter's syndrome	localisation d'une constatation (attribut)	structure de la peau	true	Inferred relationship	Some	3
Kohlschutter's syndrome	est un(e) (attribut)	Hereditary disorder of nervous system	true	Inferred relationship	Some
Kohlschutter's syndrome	est un(e) (attribut)	Hereditary disorder of the integument	true	Inferred relationship	Some
Kohlschutter's syndrome	survenue (attribut)	congénital	true	Inferred relationship	Some	4
Kohlschutter's syndrome	morphologie associée (attribut)	Developmental abnormality	false	Inferred relationship	Some	4
Kohlschutter's syndrome	localisation d'une constatation (attribut)	structure de la peau	false	Inferred relationship	Some	4
Kohlschutter's syndrome	survenue (attribut)	congénital	false	Inferred relationship	Some	5
Kohlschutter's syndrome	morphologie associée (attribut)	Developmental abnormality	false	Inferred relationship	Some	5
Kohlschutter's syndrome	localisation d'une constatation (attribut)	Structure of hard tissue of tooth	false	Inferred relationship	Some	5
Kohlschutter's syndrome	survenue (attribut)	congénital	false	Inferred relationship	Some	1
Kohlschutter's syndrome	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	1
Kohlschutter's syndrome	localisation d'une constatation (attribut)	Ectoderm structure	false	Inferred relationship	Some	1
Kohlschutter's syndrome	est un(e) (attribut)	Intellectual disability	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Client's clinical problems, conditions, diagnoses, symptoms, findings, complaints reference set (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
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 insensitive (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	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
3035221017	Amelogenesis imperfecta, intellectual disability, and epileptic seizures.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core