de lange syndrome - CISMeF

CISMeF

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De lange syndromeSNOMED Notion

Preferred Label : de lange syndrome;

Détails

Origin ID

D4-00211;

UMLS CUI

C0270972;

Automatic exact mappings (from CISMeF team)
- De Lange syndrome [PASCAL descriptor]
- De Lange's syndrome [MedDRA LLT]
Currated CISMeF NLP mapping
- Cornelia De Lange Syndrome [NCIt concept]
- Cornelia de Lange syndrome [DO Concept]
- Cornelia de Lange syndrome [ICD-11 More detail]
- Cornelia de Lange syndrome [MedDRA Preferred Term]
- Cornelia de Lange syndrome [ACR pathology]
- Cornelia de Lange syndrome [ORDO Disease]
- Cornelia de lange syndrome [OMIM phenotypic series]
- De Lange syndrome (disorder) [SNOMED CT concept]
- de lange syndrome [MeSH Descriptor]
- de lange syndrome [MeSH concept]
- de lange's syndrome [MedDRA Preferred Term]
ICD-10 exact mapping(s)
- Congenital malformation syndromes predominantly associated with short stature [ICD-10 Sub-category (who)]
Manual NTBT mappings (CISMeF)
- Eyebrow hypertrophy [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]
- Non-syndromic limb reduction defect [ORDO Disease]
- Rare genetic syndromic intellectual disability [ORDO Disease]
- Rare syndromic intellectual disability [ORDO Disease]
- Sucking/swallowing disorder associated with an identified syndrome [ORDO Disease]
- Syndrome associated with Pierre Robin syndrome [ORDO Disease]
- Syndromic diaphragmatic or abdominal wall malformation [ORDO Disease]
- Syndromic diaphragmatic or thoracic malformation [ORDO Disease]
- Syndromic disorder with strabismus [ORDO Disease]
- X-linked syndromic intellectual disability [ORDO Disease]
Metaterm(s)
- pediatrics [CISMeF Metaterm]
SNOMED CT concept
- De Lange syndrome (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Brachmann de Lange syndrome [Disease (Nov.)]
- Cornelia De Lange Syndrome [NCIt concept]
- Cornelia de Lange syndrome [ORDO Disease]
- Cornelia de Lange syndrome [DO Concept]
- Cornelia de Lange syndrome [ACR pathology]
- Cornelia de Lange syndrome [MedDRA Preferred Term]
- Cornelia de lange syndrome 1 [OMIM Phenotype]
- De Lange syndrome (disorder) [SNOMED CT concept]
- De Lange's syndrome [MedDRA LLT]
- de lange syndrome [MeSH Descriptor]
- de lange syndrome [MeSH concept]
- de lange's syndrome [MedDRA Preferred Term]
Validated automatic mappings to BTNT
- Cornelia de lange syndrome 1 [OMIM Phenotype]

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31/07/2025

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