acrodysostosis

Preferred Label : acrodysostosis;

CISMeF synonym : peripheral dysostosis;

MeSH synonym : Maroteaux-Malamut syndrome; acrodysplasia; Arkless-Graham syndrome; Peripheral dysostosis-nasal hypoplasia-mental retardation (PNM) syndrome; Nasal hypoplasia-peripheral dysostosis-mental retardation syndrome;

MeSH hyponym : Peripheral dysostosis-nasal hypoplasia-mental retardation (PNM) syndrome; ACRDYS1; Nasal hypoplasia-peripheral dysostosis-mental retardation syndrome; ACRDYS2;

CISMeF hyponym : Acrodysostosis 2, with or without hormone resistance;

Details

Origin ID

C538179;

UMLS CUI

C0220659;

Automatic exact mappings (from CISMeF team)
- Acrodysostosis [OMIM phenotypic series]
- Acrodysostosis 1 with or without hormone resistance [OMIM Phenotype]
- Acrodysostosis 2 with or without hormone resistance [OMIM Phenotype]
- Arkless-Graham syndrome [MedDRA LLT]
- Maroteaux-Malamut syndrome [MedDRA LLT]
- PDE4D wt Allele [NCIt concept]
- Peripheral dysostosis [ORDO Disease]
- Peripheral dysostosis [OMIM Phenotype]
Currated CISMeF NLP mapping
- Acrodysostosis [ICD-11 More detail]
- Acrodysostosis [MedDRA Preferred Term]
- Acrodysostosis [ORDO Disease]
- Acrodysostosis (disorder) [SNOMED CT concept]
- acrodysostosis [DO Concept]
- acrodysostosis [Disease (Nov.)]
- acrodysostosis [SNOMED Notion]
DO Cross reference
- acrodysostosis [DO Concept]
Has phenotype(s) (HPO)
- Brachymelic dwarfism [HPO term]
- Broad upturned nasal tip [HPO term]
- Low nasal bridge [HPO term]
- Short broad hands [HPO term]
MeSH term(s) associated for indexing
- dysostoses [MeSH Descriptor]
- intellectual disability [MeSH Descriptor]
- osteochondrodysplasias [MeSH Descriptor]
ORDO relation(s)
- Acrodysostosis [ORDO Disease]
Record concept(s)
- Acrodysostosis [MeSH concept]
- Acrodysostosis 1 with or without hormone resistance [MeSH concept]
- Acrodysostosis 2, with or without hormone resistance [MeSH concept]
- Peripheral Dysostosis [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Acrodysostosis [ORDO Disease]
- Acrodysostosis [MedDRA Preferred Term]
- Acrodysostosis (disorder) [SNOMED CT concept]
- Arkless-Graham syndrome [MedDRA LLT]
- Maroteaux-Malamut syndrome [MedDRA LLT]
- Peripheral dysostosis [OMIM Phenotype]
- Peripheral dysostosis [ORDO Disease]
- acrodysostosis [SNOMED Notion]
- acrodysostosis [DO Concept]
- acrodysostosis [Disease (Nov.)]
Validated automatic mappings to BTNT
- Acrodysostosis 1 [NCIt concept]

Keyword's position in hierarchy(ies) :

Main resources

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