Amelo-cerebro-hypohidrotic syndrome

Preferred Label : Amelo-cerebro-hypohidrotic syndrome;

ICD-11 definition : Amelo-cerebro-hypohidrotic syndrome or Kohlschütter-Tönz syndrome is a degenerative disease characterized by amelogenesis imperfecta, seizures, mental regression and yellow teeth due to defective enamel. So far, 19 cases have been reported. Spasticity and developmental delay are also variable manifestations. It is transmitted as an autosomal recessive trait.;

ICD-11 synonym : Kohlschütter-Tönz syndrome; Epilepsy - dementia - amelogenesis imperfecta;

Details

Origin ID

803642820;

UMLS CUI

C0406740;

Automatic exact mappings (from CISMeF team)
- Kohlschutter-Tonz syndrome [DO Concept]
Currated CISMeF NLP mapping
- Amelocerebrohypohidrotic syndrome [ORDO Disease]
- Kohlschutter Tonz syndrome [MeSH concept]
- Kohlschutter Tonz syndrome [Disease (Nov.)]
- Kohlschutter's syndrome (disorder) [SNOMED CT concept]
- Kohlschutter-tonz syndrome [OMIM Phenotype]
- kohlschutter tonz syndrome [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Amelocerebrohypohidrotic syndrome [ORDO Disease]
- Kohlschutter Tonz syndrome [MeSH concept]
- Kohlschutter Tonz syndrome [Disease (Nov.)]
- Kohlschutter's syndrome (disorder) [SNOMED CT concept]
- Kohlschutter-Tonz syndrome [DO Concept]
- Kohlschutter-tonz syndrome [OMIM Phenotype]
- kohlschutter tonz syndrome [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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