johanson-blizzard syndrome - CISMeF

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CISMeF

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Johanson-blizzard syndromeSNOMED Notion

Preferred Label : johanson-blizzard syndrome;

Details

Origin ID

D4-00207;

UMLS CUI

C0175692;

Automatic exact mappings (from CISMeF team)
- Johanson-Blizzard syndrome [ICD-11 More detail]
Currated CISMeF NLP mapping
- Johanson Blizzard syndrome [MeSH concept]
- Johanson-Blizzard syndrome [Disease (Nov.)]
- Johanson-Blizzard syndrome [MedDRA Preferred Term]
- Johanson-Blizzard syndrome [DO Concept]
- Johanson-Blizzard syndrome [ORDO Disease]
- Johanson-Blizzard syndrome (disorder) [SNOMED CT concept]
- Johanson-blizzard syndrome [OMIM Phenotype]
- johanson blizzard syndrome [MeSH Supplementary Concept]
ICD-10 exact mapping(s)
- Multiple congenital malformations, not elsewhere classified [ICD-10 Sub-category (who)]
Manual NTBT mappings (CISMeF)
- Ectodermal dysplasia syndrome [ORDO Disease]
- Genetic malformation syndrome with short stature [ORDO Disease]
- Malformation syndrome with short stature [ORDO Disease]
- Multiple congenital anomalies/dysmorphic syndrome-intellectual disability [ORDO Disease]
- Rare genetic syndromic intellectual disability [ORDO Disease]
- Rare syndromic intellectual disability [ORDO Disease]
- Syndromic anorectal malformation [ORDO Disease]
- Zlotogura-Martinez syndrome [ORDO Disease]
Metaterm(s)
- pediatrics [CISMeF Metaterm]
SNOMED CT concept
- Johanson-Blizzard syndrome (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Johanson Blizzard syndrome [MeSH concept]
- Johanson-Blizzard syndrome [ORDO Disease]
- Johanson-Blizzard syndrome [MedDRA Preferred Term]
- Johanson-Blizzard syndrome [Disease (Nov.)]
- Johanson-Blizzard syndrome [DO Concept]
- Johanson-Blizzard syndrome (disorder) [SNOMED CT concept]
- Johanson-blizzard syndrome [OMIM Phenotype]
- johanson blizzard syndrome [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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25/05/2025

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