Congenital malformation syndromes predominantly involving limbs

Preferred Label : Congenital malformation syndromes predominantly involving limbs;

Inclusion CIM-10 : Klippel-Trenaunay-Weber syndrome; Nail patella syndrome; VATER syndrome; Rubinstein-Taybi syndrome; Holt-Oram syndrome; Thrombocytopenia with absent radius [TAR] syndrome; Sirenomelia syndrome;

Diag associé à un acte (%) : 83.7;

Source : OMS;

Date de début : 01/01/1997;

Details

Origin ID

Q872;

UMLS CUI

C0431766;

Automatic exact mappings (from CISMeF team)
- Angioosteohypertrophic syndrome [ORDO Disease]
- Holt-Oram Syndrome [NCIt concept]
- Holt-Oram syndrome [MeSH concept]
- Holt-Oram syndrome [MeSH Supplementary Concept]
- Holt-Oram syndrome [ORDO Disease]
- Holt-Oram syndrome [DO Concept]
- Holt-Oram syndrome [MedDRA Preferred Term]
- Holt-Oram syndrome [PASCAL descriptor]
- Holt-Oram syndrome (disorder) [SNOMED CT concept]
- Holt-oram syndrome [OMIM Phenotype]
- Klippel-Trenaunay syndrome [MedDRA Preferred Term]
- Klippel-Trenaunay-Weber Syndrome [NCIt concept]
- Klippel-Trenaunay-Weber syndrome [MeSH Descriptor]
- Klippel-Trenaunay-Weber syndrome [MedDRA LLT]
- Klippel-Trénaunay syndrome [ICD-11 More detail]
- Klippel-trenaunay-weber syndrome [OMIM Phenotype]
- Nail patella syndrome [PASCAL descriptor]
- Nail-Patella Syndrome [NCIt concept]
- Nail-patella syndrome (disorder) [SNOMED CT concept]
- Radial aplasia-thrombocytopenia syndrome (disorder) [SNOMED CT concept]
- Sirenomelia [ICD-11 Sub-sub category]
- VACTERL Association [NCIt concept]
- VATER association [MeSH concept]
- VATER syndrome [MedDRA LLT]
- Vater syndrome [PASCAL descriptor]
- Vertebral anomalies/dysgenesis, anal atresia, tracheo-esophageal fistula, esophageal atresia, renal anomalies, radial dysplasia association (disorder) [SNOMED CT concept]
- nail-patella syndrome [MeSH Descriptor]
- nail-patella syndrome [DO Concept]
- weber klippel trenaunay [MeSH concept]
- weber klippel trenaunay [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Rubinstein-Taybi syndrome [MeSH concept]
- Rubinstein-Taybi syndrome [ORDO Disease]
- Rubinstein-Taybi syndrome [MedDRA Preferred Term]
- Rubinstein-Taybi syndrome [DO Concept]
- Rubinstein-Taybi syndrome [ICD-11 More detail]
- Rubinstein-Taybi syndrome [PASCAL descriptor]
- Rubinstein-Taybi syndrome (disorder) [SNOMED CT concept]
- Rubinstein-taybi syndrome [OMIM phenotypic series]
- Rubinstein-taybi syndrome 1 [OMIM Phenotype]
- rubinstein-taybi syndrome [SNOMED Notion]
- rubinstein-taybi syndrome [MeSH Descriptor]
DO Cross reference
- Holt-Oram syndrome [DO Concept]
- Klippel-Trenaunay syndrome [DO Concept]
- Rubinstein-Taybi syndrome [DO Concept]
- VACTERL association [DO Concept]
- microphthalmia with limb anomalies [DO Concept]
- nail-patella syndrome [DO Concept]
- split hand-foot malformation 1 with sensorineural hearing loss [DO Concept]
- thrombocytopenia-absent radius syndrome [DO Concept]
Excluded by
- Anonychia [ICD-10 Sub-category]
- Congenital malformation of knee [ICD-10 Sub-category]
- Hereditary nephropathy, not elsewhere classified [ICD-10 category]
- Other primary thrombocytopenia [ICD-10 Sub-category]
Orphanet concepts
- ADULT syndrome [ORDO Disease]
- Acrorenal syndrome [ORDO Disease]
- Adams-Oliver syndrome [ORDO Disease]
- Angioosteohypertrophic syndrome [ORDO Disease]
- Aphalangy-syndactyly-microcephaly syndrome [ORDO Disease]
- Autosomal dominant popliteal pterygium syndrome [ORDO Disease]
- Bartsocas-Papas syndrome [ORDO Disease]
- Brachydactyly-long thumb syndrome [ORDO Disease]
- Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome [ORDO Disease]
- Camptodactyly-tall stature-scoliosis-hearing loss syndrome [ORDO Disease]
- Craniosynostosis-fibular aplasia syndrome [ORDO Disease]
- Dislocation of the hip-dysmorphism syndrome [ORDO Disease]
- FATCO syndrome [ORDO Disease]
- Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome [ORDO Disease]
- Guttmacher syndrome [ORDO Disease]
- Heart defects-limb shortening syndrome [ORDO Disease]
- Heart-hand syndrome [ORDO Disease]
- Heart-hand syndrome type 2 [ORDO Disease]
- Heart-hand syndrome type 3 [ORDO Disease]
- Heart-hand syndrome, Slovenian type [ORDO Disease]
- Holt-Oram syndrome [ORDO Disease]
- Hypoglossia-hypodactyly syndrome [ORDO Disease]
- Intellectual disability-polydactyly-uncombable hair syndrome [ORDO Disease]
- Inverse Klippel-Trénaunay syndrome [ORDO Disease]
- Karsch-Neugebauer syndrome [ORDO Disease]
- Klippel-Trénaunay syndrome [ORDO Disease]
- Kuskokwim syndrome [ORDO Disease]
- Laurin-Sandrow syndrome [ORDO Disease]
- Mammary-digital-nail syndrome [ORDO Disease]
- Microphthalmia with limb anomalies [ORDO Disease]
- Mirror polydactyly-vertebral segmentation-limbs defects syndrome [ORDO Disease]
- Nail-patella syndrome [ORDO Disease]
- Oliver syndrome [ORDO Disease]
- Parkes Weber syndrome [ORDO Disease]
- Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome [ORDO Disease]
- Phocomelia, Schinzel type [ORDO Disease]
- Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome [ORDO Disease]
- Polydactyly-myopia syndrome [ORDO Disease]
- Postaxial polydactyly-dental and vertebral anomalies syndrome [ORDO Disease]
- Preaxial polydactyly-colobomata-intellectual disability syndrome [ORDO Disease]
- Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome [ORDO Disease]
- Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome [ORDO Disease]
- Rubinstein-Taybi syndrome [ORDO Disease]
- Rubinstein-Taybi syndrome due to 16p13.3 microdeletion [ORDO Disease]
- Rubinstein-Taybi syndrome due to CREBBP mutations [ORDO Disease]
- Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ORDO Disease]
- Scalp defects-postaxial polydactyly syndrome [ORDO Disease]
- Short tarsus-absence of lower eyelashes syndrome [ORDO Disease]
- Sirenomelia [ORDO Disease]
- Split hand-split foot-deafness syndrome [ORDO Disease]
- Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome [ORDO Disease]
- Syndrome with limb malformations as a major feature [ORDO Disease]
- Temple-Baraitser syndrome [ORDO Disease]
- Temtamy preaxial brachydactyly syndrome [ORDO Disease]
- Terminal osseous dysplasia-pigmentary defects syndrome [ORDO Disease]
- Thrombocythemia with distal limb defects [ORDO Disease]
- Thrombocytopenia-absent radius syndrome [ORDO Disease]
- Thumb stiffness-brachydactyly-intellectual disability syndrome [ORDO Disease]
- Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome [ORDO Disease]
- Ulna hypoplasia-intellectual disability syndrome [ORDO Disease]
- VACTERL/VATER association [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital malformation syndromes involving limbs (disorder) [SNOMED CT concept]
Validated automatic mappings to BTNT
- Complex brachydactylies [ICD-11 Subcategory]
- Heart-hand syndrome type 1 [ICD-11 More detail]
- Klippel-Trenaunay syndrome [DO Concept]
- Rubinstein-Taybi Syndrome [NCIt concept]
- Rubinstein-Taybi syndrome [Disease (Nov.)]
- VACTERL association [DO Concept]
- thrombocytopenia-absent radius syndrome [DO Concept]
Validated automatic mappings to NTBT
- nail-patella syndrome [MeSH Descriptor]

Keyword's position in hierarchy(ies) :

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