Ulna and fibula, hypoplasia of

Preferred Label : Ulna and fibula, hypoplasia of;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Mesomelic dwarfism of hypoplastic ulna and fibula type; Reinhardt-pfeiffer mesomelic dysplasia;

Inheritance : Autosomal dominant; ? allelic to dyschondrosteosis;

Prefixed ID : 191400;

Details

Origin ID

191400;

UMLS CUI

C1860616;

Automatic exact mappings (from CISMeF team)
- Mesomelic dwarfism, Reinhardt-Pfeiffer type [ICD-11 More detail]
Currated CISMeF NLP mapping
- Mesomelic dwarfism Reinhardt Pfeiffer type [MeSH concept]
- Mesomelic dwarfism, Reinhardt-Pfeiffer type [ORDO Disease]
- Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder) [SNOMED CT concept]
- mesomelic dwarfism reinhardt pfeiffer type [MeSH Supplementary Concept]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Disproportionate short-limb short stature [HPO term]
- Fibular hypoplasia [HPO term]
- Hypoplasia of the ulna [HPO term]
- Neonatal short-limb short stature [HPO term]
- Short limb dwarfism [HPO term]
- Short-limb dwarfism identifiable at birth [HPO term]
Not associated HPO term(s)
- Abnormality of the face [HPO term]
ORDO concept(s)
- Mesomelic dwarfism, Reinhardt-Pfeiffer type [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Mesomelic dwarfism Reinhardt Pfeiffer type [MeSH concept]
- Mesomelic dwarfism, Reinhardt-Pfeiffer type [ORDO Disease]
- Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder) [SNOMED CT concept]
- mesomelic dwarfism reinhardt pfeiffer type [MeSH Supplementary Concept]

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