Sprengel deformity

Preferred Label : Sprengel deformity;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : High scapula;

Inheritance : Autosomal dominant; Isolated cases;

Prefixed ID : %184400;

Details

Origin ID

184400;

UMLS CUI

C0152438;

Automatic exact mappings (from CISMeF team)
- Other congenital malformations of upper limb(s), including shoulder girdle [ICD-10 Sub-category]
- Sprengel deformity [PASCAL descriptor]
- Sprengel deformity [ICD-11 Subcategory]
Currated CISMeF NLP mapping
- Congenital elevation of scapula (disorder) [SNOMED CT concept]
- Sprengel anomaly [HPO term]
- Sprengel deformity [MeSH concept]
- Sprengel deformity [ORDO Disease]
- high scapula [Radlex concept]
- sprengel deformity [MeSH Supplementary Concept]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Cervical segmentation defect [HPO term]
- Congenital, upward displacement of the scapula [HPO term]
- Hemivertebrae [HPO term]
- Isolated cases [HPO term]
- Neck muscle hypoplasia [HPO term]
- Rib segmentation abnormalities [HPO term]
- Scoliosis [HPO term]
- Shoulder muscle hypoplasia [HPO term]
- Spina bifida occulta [HPO term]
- Sporadic [HPO term]
- Sprengel anomaly [HPO term]
ORDO concept(s)
- Sprengel deformity [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital elevation of scapula [MedDRA Preferred Term]
- Congenital elevation of scapula [ICD-9 code]
- Congenital elevation of scapula (disorder) [SNOMED CT concept]
- Sprengel anomaly [HPO term]
- Sprengel deformity [ORDO Disease]
- Sprengel deformity [MeSH concept]
- Sprengel deformity [MedDRA LLT]
- congenital elevation of scapula [SNOMED Notion]
- high scapula [Radlex concept]
- sprengel deformity [MeSH Supplementary Concept]

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