Aase Smith syndrome 2

Preferred Label : Aase Smith syndrome 2;

MeSH synonym : anemia congenital erythroid hypoplastic; aregenerative anemia, chronic congenital; Aase-Smith syndrome II; Diamond-Blackfan anemia 6; anemia, congenital erythroid hypoplastic;

Related MeSH term : Congenital anemia and triphalangeal thumbs; Hypoplastic anemia-triphalangeal thumbs, Aase-Smith type; Anemia and triphalangeal thumbs;

Details

Origin ID

C538442;

UMLS CUI

C2931850;

Automatic exact mappings (from CISMeF team)
- Aase syndrome [MedDRA Preferred Term]
- Aase syndrome (disorder) [SNOMED CT concept]
- Blackfan-Diamond anemia [ORDO Disease]
- aase syndrome [SNOMED Notion]
- asparaginase [SNOMED Notion]
Currated CISMeF NLP mapping
- Diamond-Blackfan Anemia 6 [NCIt concept]
- Diamond-Blackfan anemia 6 [DO Concept]
- Diamond-blackfan anemia 6 [OMIM Phenotype]
DO Cross reference
- Diamond-Blackfan anemia 6 [DO Concept]
False automatic mappings
- acetylsalicylic acid [Substance BNPC]
MeSH term(s) associated for indexing
- anemia, diamond-blackfan [MeSH Descriptor]
Record concept(s)
- Aase Smith syndrome 2 [MeSH concept]
- aase syndrome [MeSH concept]
See also inter- (CISMeF)
- Diamond-blackfan anemia 1 [OMIM Phenotype]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Diamond-Blackfan Anemia 6 [NCIt concept]
- Diamond-blackfan anemia 6 [OMIM Phenotype]

Keyword's position in hierarchy(ies) :

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