109478007: Amelocerebrohypohidrotic 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 Inactive 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
5444499018 Kohlschütter Tönz syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5444500010 Amelocerebrohypohidrotic syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
2884617019 Ameliogenesis imperfecta, mental retardation, and epileptic seizures en Definition Inactive Entire term case sensitive (core metadata concept) SNOMED CT core
3035221017 Amelogenesis imperfecta, intellectual disability, and epileptic seizures. en Definition Inactive Entire term case sensitive (core metadata concept) SNOMED CT core
5444501014 A genetically heterogeneous autosomal recessive syndrome characterised by the triad of amelogenesis imperfect, infantile onset epilepsy, intellectual disability with or without regression and dementia. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5444502019 A genetically heterogeneous autosomal recessive syndrome characterized by the triad of amelogenesis imperfect, infantile onset epilepsy, intellectual disability with or without regression and dementia. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Amelocerebrohypohidrotic syndrome	Is a	Congenital anomaly of digestive system	false	Inferred relationship	Some
Amelocerebrohypohidrotic syndrome	Is a	Disorder of skin AND/OR subcutaneous tissue of head (disorder)	false	Inferred relationship	Some
Amelocerebrohypohidrotic syndrome	Is a	Amelogenesis imperfecta (disorder)	true	Inferred relationship	Some
Amelocerebrohypohidrotic syndrome	Is a	Congenital anomaly of face	false	Inferred relationship	Some
Amelocerebrohypohidrotic syndrome	Is a	Ear, face and neck congenital anomalies	false	Inferred relationship	Some
Amelocerebrohypohidrotic syndrome	Is a	Congenital anomaly of respiratory system	false	Inferred relationship	Some
Amelocerebrohypohidrotic syndrome	Is a	Epilepsy	true	Inferred relationship	Some
Amelocerebrohypohidrotic syndrome	Is a	Mental retardation	false	Inferred relationship	Some
Amelocerebrohypohidrotic syndrome	Is a	Ectodermal dysplasia with tooth-sweating defect	true	Inferred relationship	Some
Amelocerebrohypohidrotic syndrome	Finding site	Jaw region structure	false	Inferred relationship	Some
Amelocerebrohypohidrotic syndrome	Occurrence	Congenital	false	Inferred relationship	Some
Amelocerebrohypohidrotic syndrome	Associated morphology	Congenital hypoplasia	false	Inferred relationship	Some	1
Amelocerebrohypohidrotic syndrome	Associated morphology	Dysplasia	false	Inferred relationship	Some	1
Amelocerebrohypohidrotic syndrome	Finding site	Cerebrum	false	Inferred relationship	Some	1
Amelocerebrohypohidrotic syndrome	Finding site	Skin structure	true	Inferred relationship	Some	3
Amelocerebrohypohidrotic syndrome	Finding site	Enamel structure	false	Inferred relationship	Some	1
Amelocerebrohypohidrotic syndrome	Is a	Congenital anomaly of head	false	Inferred relationship	Some
Amelocerebrohypohidrotic syndrome	Is a	Congenital anomaly of face	false	Inferred relationship	Some
Amelocerebrohypohidrotic syndrome	Is a	Congenital malformation	false	Inferred relationship	Some
Amelocerebrohypohidrotic syndrome	Is a	Congenital anomaly of face (disorder)	false	Inferred relationship	Some
Amelocerebrohypohidrotic syndrome	Has definitional manifestation	Seizure	false	Inferred relationship	Some
Amelocerebrohypohidrotic syndrome	Is a	Disorder of soft tissue of body cavity	false	Inferred relationship	Some
Amelocerebrohypohidrotic syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	3
Amelocerebrohypohidrotic syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	2
Amelocerebrohypohidrotic syndrome	Associated morphology	Hypoplasia	false	Inferred relationship	Some	1
Amelocerebrohypohidrotic syndrome	Finding site	Enamel structure	false	Inferred relationship	Some	1
Amelocerebrohypohidrotic syndrome	Finding site	Enamel structure	true	Inferred relationship	Some	2
Amelocerebrohypohidrotic syndrome	Is a	Disorder of soft tissue of body cavity	false	Inferred relationship	Some
Amelocerebrohypohidrotic syndrome	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Amelocerebrohypohidrotic syndrome	Is a	Hereditary disorder of the integument	true	Inferred relationship	Some
Amelocerebrohypohidrotic syndrome	Occurrence	Congenital	true	Inferred relationship	Some	4
Amelocerebrohypohidrotic syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	4
Amelocerebrohypohidrotic syndrome	Finding site	Skin structure	false	Inferred relationship	Some	4
Amelocerebrohypohidrotic syndrome	Occurrence	Congenital	false	Inferred relationship	Some	5
Amelocerebrohypohidrotic syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	5
Amelocerebrohypohidrotic syndrome	Finding site	Structure of hard tissue of tooth	false	Inferred relationship	Some	5
Amelocerebrohypohidrotic syndrome	Occurrence	Congenital	false	Inferred relationship	Some	1
Amelocerebrohypohidrotic syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Amelocerebrohypohidrotic syndrome	Finding site	Ectoderm structure	false	Inferred relationship	Some	1
Amelocerebrohypohidrotic syndrome	Is a	Intellectual disability	false	Inferred relationship	Some
Amelocerebrohypohidrotic syndrome	Finding site	Structure of hard tissue of tooth	false	Inferred relationship	Some	1
Amelocerebrohypohidrotic syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Amelocerebrohypohidrotic syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Amelocerebrohypohidrotic syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	2
Amelocerebrohypohidrotic syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Amelocerebrohypohidrotic syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	false	Inferred relationship	Some	1
Amelocerebrohypohidrotic syndrome	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	1
Amelocerebrohypohidrotic syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Amelocerebrohypohidrotic syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	3
Amelocerebrohypohidrotic syndrome	Finding site	Ectoderm structure	false	Inferred relationship	Some	2
Amelocerebrohypohidrotic syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	2
Amelocerebrohypohidrotic syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	4
Amelocerebrohypohidrotic syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Some	4
Amelocerebrohypohidrotic syndrome	Finding site	Ectoderm structure	true	Inferred relationship	Some	4
Amelocerebrohypohidrotic syndrome	Interprets	Sweating, function (observable entity)	true	Inferred relationship	Some	5
Amelocerebrohypohidrotic syndrome	Has interpretation	Abnormal	true	Inferred relationship	Some	5
Amelocerebrohypohidrotic syndrome	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	6
Amelocerebrohypohidrotic syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	6
Amelocerebrohypohidrotic syndrome	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	7
Amelocerebrohypohidrotic syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	7
Amelocerebrohypohidrotic syndrome	Finding site	Brain structure	true	Inferred relationship	Some	1
Amelocerebrohypohidrotic syndrome	Is a	Genetic intellectual disability	true	Inferred relationship	Some
Amelocerebrohypohidrotic syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some

Inbound Relationships

Characteristic

Refinability

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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	Inactive	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
5444499018	Kohlschütter Tönz syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5444500010	Amelocerebrohypohidrotic syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2884617019	Ameliogenesis imperfecta, mental retardation, and epileptic seizures	en	Definition	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
3035221017	Amelogenesis imperfecta, intellectual disability, and epileptic seizures.	en	Definition	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
5444501014	A genetically heterogeneous autosomal recessive syndrome characterised by the triad of amelogenesis imperfect, infantile onset epilepsy, intellectual disability with or without regression and dementia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5444502019	A genetically heterogeneous autosomal recessive syndrome characterized by the triad of amelogenesis imperfect, infantile onset epilepsy, intellectual disability with or without regression and dementia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core