Congenital malformation syndromes involving early overgrowth

Preferred Label : Congenital malformation syndromes involving early overgrowth;

Inclusion CIM-10 : Sotos syndrome; Beckwith-Wiedemann syndrome; Weaver syndrome;

Diag associé à un acte (%) : 82.3;

Source : OMS;

Date de début : 01/01/1997;

Details

Origin ID

Q873;

UMLS CUI

C0495640;

Automatic exact mappings (from CISMeF team)
- Beckwith-Wiedemann Syndrome [NCIt concept]
- Beckwith-Wiedemann syndrome [MeSH concept]
- Beckwith-Wiedemann syndrome [ORDO Disease]
- Beckwith-Wiedemann syndrome [DO Concept]
- Beckwith-Wiedemann syndrome [MedDRA Preferred Term]
- Beckwith-Wiedemann syndrome [PASCAL descriptor]
- Beckwith-Wiedemann syndrome (disorder) [SNOMED CT concept]
- Beckwith-wiedemann syndrome [OMIM Phenotype]
- Sotos Syndrome [NCIt concept]
- Sotos syndrome [ORDO Disease]
- Sotos syndrome [DO Concept]
- Sotos syndrome [OMIM Phenotype]
- Sotos syndrome [OMIM phenotypic series]
- Sotos' syndrome [MedDRA Preferred Term]
- Sotos' syndrome (disorder) [SNOMED CT concept]
- Weaver syndrome [MedDRA Preferred Term]
- beckwith-wiedemann syndrome [MeSH Descriptor]
- sotos syndrome [MeSH Descriptor]
- sotos syndrome [MeSH concept]
CISMeF manual mappings
- Weaver syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Multiple malformation syndrome with early overgrowth (disorder) [SNOMED CT concept]
- Overgrowth Syndrome [NCIt concept]
- Overgrowth syndrome [ORDO Disease]
- Overgrowth syndrome [PASCAL descriptor]
- Overgrowth syndromes [ICD-11 Category]
- Weaver syndrome [MeSH concept]
- Weaver syndrome [OMIM Phenotype]
- Weaver syndrome (disorder) [SNOMED CT concept]
- weaver syndrome [MeSH Supplementary Concept]
- weaver syndrome [SNOMED Notion]
DO Cross reference
- Beckwith-Wiedemann syndrome [DO Concept]
- CLOVES syndrome [DO Concept]
- Perlman syndrome [DO Concept]
- Sotos syndrome [DO Concept]
Orphanet concepts
- 15q overgrowth syndrome [ORDO Disease]
- Beckwith-Wiedemann syndrome [ORDO Disease]
- Beckwith-Wiedemann syndrome due to 11p15 microdeletion [ORDO Disease]
- Beckwith-Wiedemann syndrome due to 11p15 microduplication [ORDO Disease]
- Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion [ORDO Disease]
- Beckwith-Wiedemann syndrome due to CDKN1C mutation [ORDO Disease]
- Beckwith-Wiedemann syndrome due to NSD1 mutation [ORDO Disease]
- Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 [ORDO Disease]
- Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 [ORDO Disease]
- CLAPO syndrome [ORDO Disease]
- CLOVES syndrome [ORDO Disease]
- Congenital infiltrating lipomatosis of the face [ORDO Disease]
- Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome [ORDO Disease]
- Hemihyperplasia-multiple lipomatosis syndrome [ORDO Disease]
- Hemihypertrophy-intestinal web-corneal opacity syndrome [ORDO Disease]
- Hypertrichotic osteochondrodysplasia [ORDO Disease]
- Hypoinsulinemic hypoglycemia and body hemihypertrophy [ORDO Disease]
- Isolated hemihyperplasia [ORDO Disease]
- MOMO syndrome [ORDO Disease]
- Malan overgrowth syndrome [ORDO Disease]
- Marshall-Smith syndrome [ORDO Disease]
- Megalencephaly-capillary malformation-polymicrogyria syndrome [ORDO Disease]
- Nevo syndrome [ORDO Disease]
- Overgrowth syndrome [ORDO Disease]
- Overgrowth-macrocephaly-facial dysmorphism syndrome [ORDO Disease]
- Perlman syndrome [ORDO Disease]
- Proteus syndrome [ORDO Disease]
- Proteus-like syndrome [ORDO Disease]
- Simpson-Golabi-Behmel syndrome [ORDO Disease]
- Simpson-Golabi-Behmel syndrome type 2 [ORDO Disease]
- Sotos syndrome [ORDO Disease]
- Tatton-Brown-Rahman syndrome [ORDO Disease]
- Weaver syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to BTNT
- Beckwith-Wiedemann syndrome [ICD-11 More detail]
- Sotos syndrome [ICD-11 More detail]
- Weaver Syndrome [NCIt concept]
- Weaver syndrome [DO Concept]
- Weaver syndrome [ICD-11 More detail]
Validated automatic mappings to NTBT
- beckwith-wiedemann syndrome [MeSH Descriptor]
- sotos syndrome [MeSH Descriptor]

Keyword's position in hierarchy(ies) :

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