Homocarnosinosis

Preferred Label : Homocarnosinosis;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Homocarnosinase deficiency;

Inheritance : Autosomal recessive;

Prefixed ID : 236130;

Details

Origin ID

236130;

UMLS CUI

C0268632;

Currated CISMeF NLP mapping
- Homocarnosinase deficiency (disorder) [SNOMED CT concept]
- Homocarnosinosis [ICD-11 Sub-sub category]
- Homocarnosinosis [MeSH concept]
- Homocarnosinosis [ORDO Disease]
- Homocarnosinosis (disorder) [Inactive SNOMED CT concept]
- homocarnosinase deficiency [SNOMED Notion]
- homocarnosinosis [DO Concept]
- homocarnosinosis [MeSH Supplementary Concept]
HPO term(s)
- Abnormality of retinal pigmentation [HPO term]
- Abnormality of skin pigmentation [HPO term]
- Autosomal recessive inheritance [HPO term]
- Carnosinuria [HPO term]
- Intellectual disability [HPO term]
- Spastic paraplegia [HPO term]
ORDO concept(s)
- Homocarnosinosis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Homocarnosinosis [MeSH concept]
- Homocarnosinosis (disorder) [Inactive SNOMED CT concept]
- homocarnosinase deficiency [SNOMED Notion]
- homocarnosinosis [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients