cerebro-oculo-facio-skeletal syndrome - CISMeF

" /> cerebro-oculo-facio-skeletal syndrome - CISMeF

CISMeF

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Cerebro-oculo-facio-skeletal syndromeSNOMED Notion

Preferred Label : cerebro-oculo-facio-skeletal syndrome;

Details

Origin ID

D4-00629;

UMLS CUI

C0220722;

Currated CISMeF NLP mapping
- COFS syndrome [ORDO Disease]
- Cerebro-oculo-facio-skeletal syndrome [ICD-11 More detail]
- Cerebro-oculo-facio-skeletal syndrome (disorder) [SNOMED CT concept]
- Cerebrooculofacioskeletal Syndrome [NCIt concept]
- Cerebrooculofacioskeletal syndrome [PASCAL descriptor]
- Cerebrooculofacioskeletal syndrome [OMIM phenotypic series]
- Cerebrooculofacioskeletal syndrome 1 [OMIM Phenotype]
- Pena Shokeir syndrome Type 2 [MeSH concept]
- cerebrooculofacioskeletal syndrome [Disease (Nov.)]
- cerebrooculofacioskeletal syndrome 1 [MeSH Supplementary Concept]
- cerebrooculofacioskeletal syndrome 1 [MeSH concept]
- pena shokeir syndrome type 2 [MeSH Supplementary Concept]
ICD-10 exact mapping(s)
- Other specified congenital malformation syndromes, not elsewhere classified [ICD-10 Sub-category (who)]
Manual NTBT mappings (CISMeF)
- Multiple congenital anomalies/dysmorphic syndrome-intellectual disability [ORDO Disease]
- Rare genetic syndromic intellectual disability [ORDO Disease]
- Rare syndromic intellectual disability [ORDO Disease]
Metaterm(s)
- pediatrics [CISMeF Metaterm]
SNOMED CT concept
- Cerebro-oculo-facio-skeletal syndrome (disorder) [SNOMED CT concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cerebro-oculo-facio-skeletal syndrome (disorder) [SNOMED CT concept]
- Cerebrooculofacioskeletal Syndrome [NCIt concept]
- Cerebrooculofacioskeletal Syndrome 1 [NCIt concept]
- Cerebrooculofacioskeletal syndrome [PASCAL descriptor]
- Cerebrooculofacioskeletal syndrome 1 [OMIM Phenotype]
- cerebrooculofacioskeletal syndrome [Disease (Nov.)]
- cerebrooculofacioskeletal syndrome 1 [MeSH Supplementary Concept]
- cerebrooculofacioskeletal syndrome 1 [MeSH concept]
Validated automatic mappings to BTNT
- Cerebrooculofacioskeletal Syndrome 1 [NCIt concept]

Keyword's position in hierarchy(ies) :

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03/05/2025

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