Schneckenbecken dysplasia

Preferred Label : Schneckenbecken dysplasia;

ICD-11 definition : Schneckenbecken dysplasia (or chondrodysplasia with snail-like pelvis) is a prenatally lethal spondylodysplastic dysplasia which typical radiographic finding is the snail-like configuration of the hypoplastic iliac bone.;

ICD-11 synonym : Solute carrier family 35 deficiency; SLC35D1-CDG;

Details

Origin ID

584032448;

UMLS CUI

C0432194;

Automatic exact mappings (from CISMeF team)
- Snail-like ilia [HPO term]
Currated CISMeF NLP mapping
- Schneckenbecken dysplasia [ORDO Disease]
- Schneckenbecken dysplasia [MeSH concept]
- Schneckenbecken dysplasia [OMIM Phenotype]
- Schneckenbecken dysplasia (disorder) [SNOMED CT concept]
- schneckenbecken dysplasia [DO Concept]
- schneckenbecken dysplasia [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Schneckenbecken dysplasia [OMIM Phenotype]
- Schneckenbecken dysplasia [MeSH concept]
- Schneckenbecken dysplasia [ORDO Disease]
- Schneckenbecken dysplasia (disorder) [SNOMED CT concept]
- schneckenbecken dysplasia [DO Concept]
- schneckenbecken dysplasia [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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