lethal kniest-like syndrome - CISMeF

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CISMeF

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Lethal kniest-like syndromeSNOMED Notion

Preferred Label : lethal kniest-like syndrome;

Details

Origin ID

D4-00A28;

UMLS CUI

C1857100;

Currated CISMeF NLP mapping
- Dyssegmental dysplasia [MeSH concept]
- Dyssegmental dysplasia Silverman Handmaker type (disorder) [SNOMED CT concept]
- Dyssegmental dysplasia, Silverman-Handmaker type [ORDO Disease]
- Dyssegmental dysplasia, Silverman-Handmaker type [ICD-11 More detail]
- Dyssegmental dysplasia, silverman-handmaker type [OMIM Phenotype]
- Lethal Kniest-like syndrome (disorder) [SNOMED CT concept]
- Silverman-Handmaker type dyssegmental dysplasia [DO Concept]
- dyssegmental dysplasia [MeSH Supplementary Concept]
ICD-10 exact mapping(s)
- Other osteochondrodysplasia with defects of growth of tubular bones and spine [ICD-10 Sub-category (who)]
Metaterm(s)
- pediatrics [CISMeF Metaterm]
SNOMED CT concept
- Lethal Kniest-like syndrome (disorder) [SNOMED CT concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Dyssegmental dysplasia [MeSH concept]
- Dyssegmental dysplasia Silverman Handmaker type (disorder) [SNOMED CT concept]
- Dyssegmental dysplasia, Silverman-Handmaker type [ORDO Disease]
- Dyssegmental dysplasia, Silverman-Handmaker type [ICD-11 More detail]
- Dyssegmental dysplasia, silverman-handmaker type [OMIM Phenotype]
- Lethal Kniest-like syndrome (disorder) [SNOMED CT concept]
- Silverman-Handmaker type dyssegmental dysplasia [DO Concept]
- dyssegmental dysplasia [MeSH Supplementary Concept]

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03/05/2025

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