Cleidorhizomelic syndrome

Preferred Label : Cleidorhizomelic syndrome;

Type : Other, mainly phenotypes with suspected mendelian basis;

Inheritance : Autosomal dominant;

Prefixed ID : 119650;

Details

Origin ID

119650;

UMLS CUI

C1861515;

CISMeF manual mappings
- Cleidorhizomelic syndrome (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Cleidorhizomelic syndrome [MeSH concept]
- Cleidorhizomelic syndrome [ORDO Disease]
- cleidorhizomelic syndrome [MeSH Supplementary Concept]
HPO term(s)
- Abnormal clavicle morphology [HPO term]
- Autosomal dominant inheritance [HPO term]
- Clinodactyly of the 5th finger [HPO term]
- Hypoplasia of the middle phalanges of the hand [HPO term]
- Rhizomelia [HPO term]
- Short middle phalanx of the 5th finger [HPO term]
ORDO concept(s)
- Cleidorhizomelic syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cleidorhizomelic syndrome [MeSH concept]
- Cleidorhizomelic syndrome [ORDO Disease]
- Cleidorhizomelic syndrome (disorder) [SNOMED CT concept]
- cleidorhizomelic syndrome [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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