Angel-shaped phalangoepiphyseal dysplasia

Preferred Label : Angel-shaped phalangoepiphyseal dysplasia;

Symbol : ASPED;

CISMeF acronym : ASPED;

Type : Other, mainly phenotypes with suspected mendelian basis;

Prefixed ID : 105835;

Details

Origin ID

105835;

UMLS CUI

C1739384;

Automatic exact mappings (from CISMeF team)
- A1CF wt Allele [NCIt concept]
- ASIP wt Allele [NCIt concept]
- ASPM wt Allele [NCIt concept]
- ASPSCR1 wt Allele [NCIt concept]
- ATG5 wt Allele [NCIt concept]
- Agouti-Signaling Protein [NCIt concept]
- Alveolar Soft Part Sarcoma [NCIt concept]
- Aspartic Acid [NCIt concept]
- Aspartic Acid Measurement [NCIt concept]
- CSNK1D wt Allele [NCIt concept]
CISMeF manual mappings
- Angel-shaped phalangoepiphyseal dysplasia (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- ASPED [MedDRA LLT]
- Angel shaped phalangoepiphyseal dysplasia [MeSH concept]
- Angel-shaped phalango-epiphyseal dysplasia [ICD-11 More detail]
- Angel-shaped phalango-epiphyseal dysplasia [MedDRA LLT]
- Angel-shaped phalango-epiphyseal dysplasia [ORDO Disease]
- angel shaped phalangoepiphyseal dysplasia [MeSH Supplementary Concept]
HPO term(s)
- Delayed ossification of carpal bones [HPO term]
- Hip osteoarthritis [HPO term]
- Hyperextensibility of the finger joints [HPO term]
- Premature osteoarthritis [HPO term]
- Pseudoepiphyses of the metacarpals [HPO term]
- Short stature [HPO term]
ORDO concept(s)
- Angel-shaped phalango-epiphyseal dysplasia [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- ASPED [MedDRA LLT]
- Angel shaped phalangoepiphyseal dysplasia [MeSH concept]
- Angel-shaped phalango-epiphyseal dysplasia [MedDRA LLT]
- Angel-shaped phalango-epiphyseal dysplasia [ORDO Disease]
- Angel-shaped phalango-epiphyseal dysplasia [ICD-11 More detail]
- Angel-shaped phalangoepiphyseal dysplasia (disorder) [SNOMED CT concept]
- angel shaped phalangoepiphyseal dysplasia [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients