SNOMED CT, US Edition

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/SNOMEDCT/109478007
http://purl.bioontology.org/ontology/SNOMEDCT/109478007
Preferred Name

Amelocerebrohypohidrotic syndrome
Definitions
Amelogenesis imperfecta, intellectual disability, and epileptic seizures. A genetically heterogeneous autosomal recessive syndrome characterised by the triad of amelogenesis imperfect, infantile onset epilepsy, intellectual disability with or without regression and dementia. A genetically heterogeneous autosomal recessive syndrome characterized by the triad of amelogenesis imperfect, infantile onset epilepsy, intellectual disability with or without regression and dementia. Ameliogenesis imperfecta, mental retardation, and epileptic seizures
Synonyms
Kohlschutter syndrome
Kohlschutter's syndrome
Kohlschütter Tönz syndrome
Epilepsy, dementia and amelogenesis imperfecta
Epilepsy, mental deterioration and yellow teeth
Amelocerebrohypohidrotic syndrome (disorder)
Type http://www.w3.org/2002/07/owl#Class

All Properties

definition

Amelogenesis imperfecta, intellectual disability, and epileptic seizures.

A genetically heterogeneous autosomal recessive syndrome characterised by the triad of amelogenesis imperfect, infantile onset epilepsy, intellectual disability with or without regression and dementia.

A genetically heterogeneous autosomal recessive syndrome characterized by the triad of amelogenesis imperfect, infantile onset epilepsy, intellectual disability with or without regression and dementia.

Ameliogenesis imperfecta, mental retardation, and epileptic seizures
prefLabel
Amelocerebrohypohidrotic syndrome
altLabel
Kohlschutter syndrome
Kohlschutter's syndrome
Kohlschütter Tönz syndrome
Epilepsy, dementia and amelogenesis imperfecta
Epilepsy, mental deterioration and yellow teeth
Amelocerebrohypohidrotic syndrome (disorder)
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Has interpretation
Type ID
900000000000003001
900000000000013009
Semantic type UMLS property
Has finding site
interprets
Effective time
20020131
cui
C0406740
Has pathological process
CTV3ID
X50Hu
DEFINITION STATUS ID
900000000000074008
CASE SIGNIFICANCE ID
900000000000448009
900000000000017005
Occurs in
tui
T047
Active
1
Has associated morphology
notation
109478007
INACTIVATION INDICATOR
900000000000483008
type
subClassOf
Subset member
447562003~MAPRULE~TRUE
6011000124106~MAPTARGET~G40.802
6011000124106~MAPADVICE~ALWAYS F79 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE
447562003~MAPTARGET~Q89.8
6011000124106~MAPTARGET~F78.A9
6011000124106~MAPADVICE~ALWAYS F78.A9 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE
6011000124106~MAPTARGET~K00.4
6011000124106~MAPGROUP~1
6011000124106~MAPGROUP~2
900000000000497000~MAPTARGET~X50Hu
6011000124106~MAPADVICE~ALWAYS G40.802
900000000000508004~ACCEPTABILITYID~900000000000549004
447562003~MAPGROUP~1
6011000124106~MAPTARGET~F79
6011000124106~MAPTARGET~Q82.8
447562003~CORRELATIONID~447561005
6011000124106~MAPCATEGORYID~447637006
900000000000509007~ACCEPTABILITYID~900000000000548007
900000000000508004~ACCEPTABILITYID~900000000000548007
447562003~MAPPRIORITY~1
447562003~MAPADVICE~ALWAYS Q89.8
447562003~MAPCATEGORYID~447637006
6011000124106~MAPGROUP~4
900000000000490003~VALUEID~900000000000483008
6011000124106~MAPPRIORITY~1
6011000124106~MAPADVICE~ALWAYS Q82.8
6011000124106~CORRELATIONID~447561005
6011000124106~MAPADVICE~ALWAYS K00.4
6011000124106~MAPRULE~TRUE
6011000124106~MAPGROUP~3
900000000000509007~ACCEPTABILITYID~900000000000549004
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