hypophosphatasia, infantile

Preferred Label : hypophosphatasia, infantile;

MeSH note : mutation in ALPL;

MeSH synonym : phosphoethanolaminuria;

Origin ID

C562646;

UMLS CUI

C0268412;

Automatic exact mappings (from CISMeF team)
- Hypophosphatasia [ORDO Disease]
- Phosphoethanolaminuria [HPO term]
Currated CISMeF NLP mapping
- Hypophosphatasia, infantile [OMIM Phenotype]
- Infantile hypophosphatasia [ORDO Disease]
- Infantile hypophosphatasia (disorder) [SNOMED CT concept]
- infantile hypophosphatasia [DO Concept]
- infantile hypophosphatasia [Disease (Nov.)]
- infantile hypophosphatasia [SNOMED Notion]
HPO term
- Phosphoethanolaminuria [HPO term]
MeSH term(s) associated for indexing
- hypophosphatasia [MeSH Descriptor]
Record concept(s)
- hypophosphatasia, infantile [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hypophosphatasia, infantile [OMIM Phenotype]
- Infantile hypophosphatasia [ORDO Disease]
- Infantile hypophosphatasia (disorder) [SNOMED CT concept]
- Phosphoethanolaminuria [HPO term]
- infantile hypophosphatasia [SNOMED Notion]
- infantile hypophosphatasia [DO Concept]
- infantile hypophosphatasia [Disease (Nov.)]