abnormalities, multiple

Preferred Label : abnormalities, multiple;

MeSH definition : Congenital abnormalities that affect more than one organ or body structure.;

MeSH synonym : multiple abnormalities;

MeSH annotation : IM; do not use /compl /congen & do not coord with INFANT, NEWBORN, DISEASES; coord IM with specific abnorm (IM); Manual 23.20.2; coordinate with specific abnormalities;

Details

Origin ID

D000015;

UMLS CUI

C0000772;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Congenital malformation syndrome (disorder) [SNOMED CT concept]
- Multiple Abnormalities [NCIt concept]
- Multiple Malformations [NCIt concept]
- Multiple congenital anomalies, so described [ICD-9 code]
- Multiple congenital malformations, not elsewhere classified [ICD-10 Sub-category (who)]
- Multiple system atrophy (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Anomalies congenital multiple [MedDRA LLT]
- Anomaly congenital multiple (NOS) [MedDRA LLT]
- MALFORMATIONS MULTIPLE [WHO-ART Preferred Term]
- Malformations multiple [MedDRA LLT]
- Multiple Congenital Anomalies [NCIt concept]
- Multiple congenital abnormalities [MedDRA Preferred Term]
- Multiple congenital anomalies [MedDRA LLT]
- Multiple congenital anomalies (disorder) [Inactive SNOMED CT concept]
- Multiple congenital anomalies (morphologic abnormality) [Inactive SNOMED CT concept]
- Multiple congenital malformations [MedDRA LLT]
- Multiple congenital malformations (disorder) [Inactive SNOMED CT concept]
- congenital anomaly nos/multiple [ICPC-2 Rubric]
- multiple congenital anomalies, nos [SNOMED Notion]
Manual BTNT mappings - CISMeF
- 3M syndrome [ORDO Disease]
- 49,XYYYY syndrome [ORDO Disease]
- 8q22.1 microdeletion syndrome [ORDO Disease]
- Aase-Smith syndrome [ORDO Disease]
- Abruzzo-Erickson syndrome [ORDO Disease]
- Absent tibia-polydactyly-arachnoid cyst syndrome [ORDO Disease]
- Acro-renal-mandibular syndrome [ORDO Disease]
- Acro-renal-ocular syndrome [ORDO Disease]
- Acrocraniofacial dysostosis [ORDO Disease]
- Acromegaly-cutis verticis gyrata-corneal leukoma syndrome [ORDO Disease]
- Acrorenal syndrome [ORDO Disease]
- Alar cartilages hypoplasia-coloboma-telecanthus syndrome [ORDO Disease]
- Anonychia-microcephaly syndrome [ORDO Disease]
- Anophthalmia plus syndrome [ORDO Disease]
- Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome [ORDO Disease]
- Arrhinia-choanal atresia-microphthalmia syndrome [ORDO Disease]
- Atrioventricular defect-blepharophimosis-radial and anal defect syndrome [ORDO Disease]
- Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome [ORDO Disease]
- Auriculoocular anomalies-cleft lip syndrome [ORDO Disease]
- Autosomal dominant prognathism [ORDO Disease]
- Autosomal recessive faciodigitogenital syndrome [ORDO Disease]
- Autosomal recessive multiple pterygium syndrome [ORDO Disease]
- BNAR syndrome [ORDO Disease]
- Barber-Say syndrome [ORDO Disease]
- Beemer-Ertbruggen syndrome [ORDO Disease]
- Bencze syndrome [ORDO Disease]
- Blepharo-cheilo-odontic syndrome [ORDO Disease]
- Blepharofacioskeletal syndrome [ORDO Disease]
- Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome [ORDO Disease]
- Brachytelephalangy-dysmorphism-Kallmann syndrome [ORDO Disease]
- Braddock syndrome [ORDO Disease]
- Branchiootic syndrome [ORDO Disease]
- Burn-McKeown syndrome [ORDO Disease]
- CODAS syndrome [ORDO Disease]
- Camptodactyly syndrome, Guadalajara type 1 [ORDO Disease]
- Camptodactyly syndrome, Guadalajara type 2 [ORDO Disease]
- Cataract-aberrant oral frenula-growth delay syndrome [ORDO Disease]
- Charlie M syndrome [ORDO Disease]
- Cleft lip-retinopathy syndrome [ORDO Disease]
- Cleft lip/palate-intestinal malrotation-cardiopathy syndrome [ORDO Disease]
- Cleft palate-lateral synechia syndrome [ORDO Disease]
- Cole-Carpenter syndrome [ORDO Disease]
- Congenital hypothalamic hamartoma syndrome [ORDO Disease]
- Cooper-Jabs syndrome [ORDO Disease]
- Craniofacial-deafness-hand syndrome [ORDO Disease]
- Craniolenticulosutural dysplasia [ORDO Disease]
- Cryptomicrotia-brachydactyly-excess fingertip arch syndrome [ORDO Disease]
- Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome [ORDO Disease]
- Cyprus facial-neuromusculoskeletal syndrome [ORDO Disease]
- Czeizel-Losonci syndrome [ORDO Disease]
- Dahlberg-Borer-Newcomer syndrome [ORDO Disease]
- Deafness-craniofacial syndrome [ORDO Disease]
- Dermato-cardio-skeletal syndrome, Borrone type [ORDO Disease]
- Developmental malformations-deafness-dystonia syndrome [ORDO Disease]
- Dislocation of the hip-dysmorphism syndrome [ORDO Disease]
- Distal arthrogryposis type 1 [ORDO Disease]
- Donnai-Barrow syndrome [ORDO Disease]
- Ectrodactyly-cleft palate syndrome [ORDO Disease]
- Femoral-facial syndrome [ORDO Disease]
- Fetal akinesia deformation sequence [ORDO Disease]
- Fibulo-ulnar hypoplasia-renal anomalies syndrome [ORDO Disease]
- Frontofacionasal dysplasia [ORDO Disease]
- Furlong syndrome [ORDO Disease]
- Genitopalatocardiac syndrome [ORDO Disease]
- Gingival fibromatosis-facial dysmorphism syndrome [ORDO Disease]
- Gordon syndrome [ORDO Disease]
- Gorlin-Chaudhry-Moss syndrome [ORDO Disease]
- Grange syndrome [ORDO Disease]
- Growth deficiency-brachydactyly-dysmorphism syndrome [ORDO Disease]
- Hand-foot-genital syndrome [ORDO Disease]
- Heart defect-tongue hamartoma-polysyndactyly syndrome [ORDO Disease]
- Heart defects-limb shortening syndrome [ORDO Disease]
- Heart-hand syndrome type 2 [ORDO Disease]
- Heart-hand syndrome type 3 [ORDO Disease]
- Hirschsprung disease-deafness-polydactyly syndrome [ORDO Disease]
- Hirschsprung disease-type D brachydactyly syndrome [ORDO Disease]
- Holzgreve syndrome [ORDO Disease]
- Hydrocephaly-tall stature-joint laxity syndrome [ORDO Disease]
- Hypertelorism-hypospadias-polysyndactyly syndrome [ORDO Disease]
- Hypertrichosis-acromegaloid facial appearance syndrome [ORDO Disease]
- Hypopituitarism-micropenis-cleft lip/palate syndrome [ORDO Disease]
- Ichthyosis-oral and digital anomalies syndrome [ORDO Disease]
- Juberg-Hayward syndrome [ORDO Disease]
- Keipert syndrome [ORDO Disease]
- LIG4 syndrome [ORDO Disease]
- LUMBAR syndrome [ORDO Disease]
- Lethal congenital contracture syndrome type 1 [ORDO Disease]
- Lethal congenital contracture syndrome type 2 [ORDO Disease]
- Lethal congenital contracture syndrome type 3 [ORDO Disease]
- Lewis-Pashayan syndrome [ORDO Disease]
- Lymphedema-cleft palate syndrome [ORDO Disease]
- Macrosomia-microphthalmia-cleft palate syndrome [ORDO Disease]
- Macrostomia-preauricular tags-external ophthalmoplegia syndrome [ORDO Disease]
- Mandibuloacral dysplasia [ORDO Disease]
- Matthew-Wood syndrome [ORDO Disease]
- Maxillonasal dysplasia [ORDO Disease]
- Median nodule of the upper lip [ORDO Disease]
- Mesomelic dwarfism-cleft palate-camptodactyly syndrome [ORDO Disease]
- Microcephaly-albinism-digital anomalies syndrome [ORDO Disease]
- Microcephaly-cardiac defect-lung malsegmentation syndrome [ORDO Disease]
- Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type [ORDO Disease]
- Microgastria-limb reduction defect syndrome [ORDO Disease]
- Multinodular goiter-cystic kidney-polydactyly syndrome [ORDO Disease]
- Müllerian duct anomalies-limb anomalies syndrome [ORDO Disease]
- Nager syndrome [ORDO Disease]
- Nasopalpebral lipoma-coloboma syndrome [ORDO Disease]
- Nephrosis-deafness-urinary tract-digital malformations syndrome [ORDO Disease]
- Night blindness-skeletal anomalies-dysmorphism syndrome [ORDO Disease]
- Oculo-oto-facial dysplasia [ORDO Disease]
- Oculoauriculovertebral spectrum with radial defects [ORDO Disease]
- PAGOD syndrome [ORDO Disease]
- PARC syndrome [ORDO Disease]
- PHAVER syndrome [ORDO Disease]
- Pai syndrome [ORDO Disease]
- Pentalogy of Cantrell [ORDO Disease]
- Polysyndactyly-cardiac malformation syndrome [ORDO Disease]
- Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome [ORDO Disease]
- Primary immunodeficiency syndrome due to LAMTOR2 deficiency [ORDO Disease]
- Progressive non-infectious anterior vertebral fusion [ORDO Disease]
- Pyramidal molars-abnormal upper lip syndrome [ORDO Disease]
- RAPADILINO syndrome [ORDO Disease]
- Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome [ORDO Disease]
- Renal dysplasia-megalocystis-sirenomelia syndrome [ORDO Disease]
- Renal-genital-middle ear anomalies [ORDO Disease]
- Richieri Costa-Pereira syndrome [ORDO Disease]
- Richieri Costa-da Silva syndrome [ORDO Disease]
- Robinow-Sorauf syndrome [ORDO Disease]
- SHORT syndrome [ORDO Disease]
- SPECC1L-related hypertelorism syndrome [ORDO Disease]
- Scalp-ear-nipple syndrome [ORDO Disease]
- Schilbach-Rott syndrome [ORDO Disease]
- Short stature-craniofacial anomalies-genital hypoplasia syndrome [ORDO Disease]
- Short tarsus-absence of lower eyelashes syndrome [ORDO Disease]
- Syndactyly-telecanthus-anogenital and renal malformations syndrome [ORDO Disease]
- Tetraamelia-multiple malformations syndrome [ORDO Disease]
- Thomas syndrome [ORDO Disease]
- Thymic-renal-anal-lung dysplasia [ORDO Disease]
- Torg-Winchester syndrome [ORDO Disease]
- Townes-Brocks syndrome [ORDO Disease]
- Trigonocephaly-bifid nose-acral anomalies syndrome [ORDO Disease]
- VACTERL/VATER association [ORDO Disease]
- Van den Ende-Gupta syndrome [ORDO Disease]
- Velo-facial-skeletal syndrome [ORDO Disease]
- Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome [ORDO Disease]
- Verloove Vanhorick-Brubakk syndrome [ORDO Disease]
- Vici syndrome [ORDO Disease]
- Von Voss-Cherstvoy syndrome [ORDO Disease]
- Waardenburg syndrome type 1 [ORDO Disease]
- Waardenburg syndrome type 2 [ORDO Disease]
- Weissenbacher-Zweymuller syndrome [ORDO Disease]
- White forelock with malformations [ORDO Disease]
Manual NTBT mappings (CISMeF)
- Genetic multiple congenital anomalies/dysmorphic syndrome [ORDO Disease]
- Multiple congenital anomalies/dysmorphic syndrome [ORDO Disease]
Metaterm(s)
- disability [CISMeF Metaterm]
Record concept(s)
- abnormalities, multiple [MeSH concept]
Related MeSH Supplementary Concept(s)
- 3-Methylglutaconic aciduria type IV [MeSH Supplementary Concept]
- 3C syndrome [MeSH Supplementary Concept]
- Aase Smith syndrome [MeSH Supplementary Concept]
- Agenesis of Cerebellar Vermis [MeSH Supplementary Concept]
- Al-Gazali syndrome [MeSH Supplementary Concept]
- Anemia, Congenital Hypoplastic, with Multiple Congenital Anomalies-Mental Retardation Syndrome [MeSH Supplementary Concept]
- Axenfeld-Rieger anomaly with cardiac defects and sensorineural hearing loss [MeSH Supplementary Concept]
- Bainbridge-Ropers syndrome [MeSH Supplementary Concept]
- Beta-Hydroxyisobutyryl CoA deacylase deficiency [MeSH Supplementary Concept]
- Beta-Ureidopropionase deficiency [MeSH Supplementary Concept]
- Branchiogenic-Deafness syndrome [MeSH Supplementary Concept]
- COACH syndrome [MeSH Supplementary Concept]
- Coffin-Siris syndrome [MeSH Supplementary Concept]
- Contiguous Abcd1-Dxs1375e Deletion Syndrome [MeSH Supplementary Concept]
- Craniosynostosis-Mental retardation syndrome of lin and gettig [MeSH Supplementary Concept]
- DK phocomelia syndrome [MeSH Supplementary Concept]
- Fine-Lubinsky syndrome [MeSH Supplementary Concept]
- GEMSS syndrome [MeSH Supplementary Concept]
- Genee-Wiedemann syndrome [MeSH Supplementary Concept]
- Holt-Oram syndrome [MeSH Supplementary Concept]
- Hunter-Macdonald syndrome [MeSH Supplementary Concept]
- Insulin-Like growth factor I, resistance to [MeSH Supplementary Concept]
- Jarcho-Levin syndrome [MeSH Supplementary Concept]
- KBG syndrome [MeSH Supplementary Concept]
- Larsen-Like syndrome [MeSH Supplementary Concept]
- Laurin-Sandrow syndrome [MeSH Supplementary Concept]
- Lung agenesis [MeSH Supplementary Concept]
- MORM syndrome [MeSH Supplementary Concept]
- Male pseudohermaphroditism-mental retardation syndrome, Verloes type [MeSH Supplementary Concept]
- Marden-Walker syndrome [MeSH Supplementary Concept]
- Marshall-Smith syndrome [MeSH Supplementary Concept]
- Martin-Probst Deafness-Mental retardation syndrome [MeSH Supplementary Concept]
- McDonough syndrome [MeSH Supplementary Concept]
- McKusick kaufman syndrome [MeSH Supplementary Concept]
- McPherson clemens syndrome [MeSH Supplementary Concept]
- Morillo-Cucci passarge syndrome [MeSH Supplementary Concept]
- Pelvis-Shoulder dysplasia [MeSH Supplementary Concept]
- Podder-Tolmie syndrome [MeSH Supplementary Concept]
- Potocki-Lupski syndrome [MeSH Supplementary Concept]
- Renal-Hepatic-Pancreatic dysplasia [MeSH Supplementary Concept]
- SCARF syndrome [MeSH Supplementary Concept]
- Sao Paulo MCA-MR Syndrome [MeSH Supplementary Concept]
- Schinzel-Giedion syndrome [MeSH Supplementary Concept]
- Schrander-Stumpel theunissen hulsmans syndrome [MeSH Supplementary Concept]
- Simpson-Golabi-Behmel syndrome, type 2 [MeSH Supplementary Concept]
- Split-Hand with obstructive uropathy, spina bifida, and diaphragmatic defects [MeSH Supplementary Concept]
- Stevenson-Carey syndrome [MeSH Supplementary Concept]
- Townes-Brocks syndrome [MeSH Supplementary Concept]
- Townes-Brocks-Branchiootorenal-Like syndrome [MeSH Supplementary Concept]
- Verloove-Vanhorick brubakk syndrome [MeSH Supplementary Concept]
- WT limb blood syndrome [MeSH Supplementary Concept]
- Weaver-Like syndrome [MeSH Supplementary Concept]
- Weyers ulnar ray-oligodactyly syndrome [MeSH Supplementary Concept]
- XK aprosencephaly [MeSH Supplementary Concept]
- Zechi-Ceide syndrome [MeSH Supplementary Concept]
- ablepharon macrostomia syndrome [MeSH Supplementary Concept]
- acrocephalopolydactylous dysplasia [MeSH Supplementary Concept]
- acromegaloid features, overgrowth, cleft palate, and hernia [MeSH Supplementary Concept]
- adducted thumbs syndrome [MeSH Supplementary Concept]
- agonadism, XY, with mental retardation, short stature, retarded bone age, and multiple extragenital malformations [MeSH Supplementary Concept]
- aksu von stockhausen syndrome [MeSH Supplementary Concept]
- al gazali aziz salem syndrome [MeSH Supplementary Concept]
- amastia, bilateral, with ureteral triplication and dysmorphism [MeSH Supplementary Concept]
- anisomastia [MeSH Supplementary Concept]
- arthrogryposis epileptic seizures migrational brain disorder [MeSH Supplementary Concept]
- aughton syndrome [MeSH Supplementary Concept]
- aural atresia, multiple congenital anomalies, and mental retardation [MeSH Supplementary Concept]
- axial mesodermal dysplasia spectrum [MeSH Supplementary Concept]
- bamforth syndrome [MeSH Supplementary Concept]
- ben ari shuper mimouni syndrome [MeSH Supplementary Concept]
- blepharophimosis syndrome ohdo type [MeSH Supplementary Concept]
- bowen syndrome [MeSH Supplementary Concept]
- brachydactyly, intraventricular septal defect, and deafness [MeSH Supplementary Concept]
- brachymesomelia renal syndrome [MeSH Supplementary Concept]
- broad terminal phalanges, familial [MeSH Supplementary Concept]
- burnett schwartz berberian syndrome [MeSH Supplementary Concept]
- cerebrofaciothoracic dysplasia [MeSH Supplementary Concept]
- cerebrofrontofacial syndrome [MeSH Supplementary Concept]
- cervical ribs sprengel anomaly anal atresia urethral obstruction [MeSH Supplementary Concept]
- char syndrome [MeSH Supplementary Concept]
- chemke oliver mallek syndrome [MeSH Supplementary Concept]
- chondrodysplasia, Megarbane-Dagher-Melki type [MeSH Supplementary Concept]
- chromosome 15q26-Qter deletion syndrome [MeSH Supplementary Concept]
- chromosome 17q21.31 deletion syndrome [MeSH Supplementary Concept]
- chromosome 19q13.11 deletion syndrome [MeSH Supplementary Concept]
- chromosome 1q21.1 deletion syndrome, 1.35-Mb [MeSH Supplementary Concept]
- chromosome 1q43-Q44 deletion syndrome [MeSH Supplementary Concept]
- chromosome 22q11.2 deletion syndrome, distal [MeSH Supplementary Concept]
- chromosome 22q11.2 microduplication syndrome [MeSH Supplementary Concept]
- chromosome 2p16.1-P15 deletion syndrome [MeSH Supplementary Concept]
- chromosome 2q31.2 deletion syndrome [MeSH Supplementary Concept]
- chromosome 2q32-Q33 deletion syndrome [MeSH Supplementary Concept]
- chromosome 5p13 duplication syndrome [MeSH Supplementary Concept]
- cleft palate, midfacial hypoplasia, triangular facies, and sensorineural hearing loss [MeSH Supplementary Concept]
- congenital hemidysplasia with ichthyosiform erythroderma and limb defects [MeSH Supplementary Concept]
- costocoracoid ligament congenitally short [MeSH Supplementary Concept]
- craniofacial deafness hand syndrome [MeSH Supplementary Concept]
- craniofaciofrontodigital syndrome [MeSH Supplementary Concept]
- craniofacioskeletal syndrome [MeSH Supplementary Concept]
- craniomicromelic syndrome [MeSH Supplementary Concept]
- craniosynostosis syndrome, autosomal recessive [MeSH Supplementary Concept]
- cree mental retardation syndrome [MeSH Supplementary Concept]
- crumpled helices and small mouth [MeSH Supplementary Concept]
- cryptomicrotia brachydactyly syndrome [MeSH Supplementary Concept]
- deafness nephritis ano rectal malformation [MeSH Supplementary Concept]
- delayed cranial ossification due to CBFB haploinsufficiency [MeSH Supplementary Concept]
- desmosterolosis [MeSH Supplementary Concept]
- devriendt syndrome [MeSH Supplementary Concept]
- diarrhea 3, secretory sodium, congenital [MeSH Supplementary Concept]
- dincsoy salih patel syndrome [MeSH Supplementary Concept]
- ectrodactyly cardiopathy dysmorphism [MeSH Supplementary Concept]
- elliott ludman teebi syndrome [MeSH Supplementary Concept]
- ellis yale winter syndrome [MeSH Supplementary Concept]
- epithelial squamous dysplasia, keratinizing desquamative, of urinary tract [MeSH Supplementary Concept]
- external auditory canal, bilateral atresia of, with congenital vertical talus [MeSH Supplementary Concept]
- facial dysmorphism with multiple malformations [MeSH Supplementary Concept]
- facio thoraco genital syndrome [MeSH Supplementary Concept]
- faciogenital dysplasia with attention Deficit-Hyperactivity disorder [MeSH Supplementary Concept]
- feingold trainer syndrome [MeSH Supplementary Concept]
- femur bifid with monodactylous ectrodactyly [MeSH Supplementary Concept]
- femur fibula ulna syndrome [MeSH Supplementary Concept]
- fibrochondrogenesis [MeSH Supplementary Concept]
- fibromatosis, gingival, with hypertrichosis and mental retardation [MeSH Supplementary Concept]
- flat umbilicus familial [MeSH Supplementary Concept]
- floating-harbor syndrome [MeSH Supplementary Concept]
- forney robinson pascoe syndrome [MeSH Supplementary Concept]
- fountain syndrome [MeSH Supplementary Concept]
- fraser jequier chen syndrome [MeSH Supplementary Concept]
- fried goldberg mundel syndrome [MeSH Supplementary Concept]
- gardner morrisson abbot syndrome [MeSH Supplementary Concept]
- glutamyl Ribose-5-Phosphate storage disease [MeSH Supplementary Concept]
- gomez lopez hernandez syndrome [MeSH Supplementary Concept]
- gonadal dysgenesis, XY type, with associated anomalies [MeSH Supplementary Concept]
- grant syndrome [MeSH Supplementary Concept]
- growth deficiency and mental retardation with facial dysmorphism [MeSH Supplementary Concept]
- growth retardation, developmental delay, coarse facies, and early death [MeSH Supplementary Concept]
- hadziselimovic syndrome [MeSH Supplementary Concept]
- halal syndrome [MeSH Supplementary Concept]
- hand foot uterus syndrome [MeSH Supplementary Concept]
- hanhart syndrome [MeSH Supplementary Concept]
- harrod doman keele syndrome [MeSH Supplementary Concept]
- heart defects limb shortening [MeSH Supplementary Concept]
- hecht scott syndrome [MeSH Supplementary Concept]
- hecht syndrome [MeSH Supplementary Concept]
- hemolytic anemia, lethal congenital nonspherocytic, with genital and other abnormalities [MeSH Supplementary Concept]
- hersh podruch weisskopk syndrome [MeSH Supplementary Concept]
- hirschsprung disease with heart defects, laryngeal anomalies, and preaxial polydactyly [MeSH Supplementary Concept]
- hittner hirsch kreh syndrome [MeSH Supplementary Concept]
- ho kaufman mcalister syndrome [MeSH Supplementary Concept]
- holzgreve wagner rehder syndrome [MeSH Supplementary Concept]
- hordnes engebretsen knudtson syndrome [MeSH Supplementary Concept]
- hydrops fetalis, nonimmune, with gracile bones and dysmorphic features [MeSH Supplementary Concept]
- hyperphosphatasia with mental retardation [MeSH Supplementary Concept]
- hypomelia mullerian duct anomalies [MeSH Supplementary Concept]
- hypoparathyroidism-retardation-dysmorphism syndrome [MeSH Supplementary Concept]
- hypophosphatemia, renal, with intracerebral calcifications [MeSH Supplementary Concept]
- hypotonia, seizures, and precocious puberty [MeSH Supplementary Concept]
- iris dysplasia hypertelorism deafness [MeSH Supplementary Concept]
- jequier kozlowski skeletal dysplasia [MeSH Supplementary Concept]
- jung wolff back stahl syndrome [MeSH Supplementary Concept]
- kabuki syndrome [MeSH Supplementary Concept]
- kapur toriello syndrome [MeSH Supplementary Concept]
- kashani strom utley syndrome [MeSH Supplementary Concept]
- kasznica carlson coppedge syndrome [MeSH Supplementary Concept]
- keratoconus posticus circumscriptus with associated malformations [MeSH Supplementary Concept]
- keutel syndrome [MeSH Supplementary Concept]
- kleiner holmes syndrome [MeSH Supplementary Concept]
- knuckle pads, leuconychia and sensorineural deafness [MeSH Supplementary Concept]
- kosztolanyi syndrome [MeSH Supplementary Concept]
- kozlowski brown hardwick syndrome [MeSH Supplementary Concept]
- krauss herman holmes syndrome [MeSH Supplementary Concept]
- krieble bixler syndrome [MeSH Supplementary Concept]
- kyphomelic dysplasia [MeSH Supplementary Concept]
- lacrimoauriculodentodigital syndrome [MeSH Supplementary Concept]
- larsen like syndrome, lethal type [MeSH Supplementary Concept]
- larsen syndrome, recessive type [MeSH Supplementary Concept]
- lateral meningocele syndrome [MeSH Supplementary Concept]
- lateral semicircular canal malformation, familial, with external and middle ear abnormalities [MeSH Supplementary Concept]
- le marec bracq picaud syndrome [MeSH Supplementary Concept]
- lenz majewski hyperostotic dwarfism [MeSH Supplementary Concept]
- leukoencephalopathy, arthritis, colitis, and hypogammaglobulinemia [MeSH Supplementary Concept]
- light fixation seizure syndrome [MeSH Supplementary Concept]
- lopes gorlin syndrome [MeSH Supplementary Concept]
- lowry maclean syndrome [MeSH Supplementary Concept]
- lutz richner landolt syndrome [MeSH Supplementary Concept]
- lymphedema, cardiac septal defects, and characteristic facies [MeSH Supplementary Concept]
- macrosomia obesity macrocephaly ocular abnormalities [MeSH Supplementary Concept]
- macrosomia with lethal microphthalmia [MeSH Supplementary Concept]
- malpuech facial clefting syndrome [MeSH Supplementary Concept]
- manouvrier syndrome [MeSH Supplementary Concept]
- marden walker like syndrome [MeSH Supplementary Concept]
- marles greenberg persaud syndrome [MeSH Supplementary Concept]
- meckel syndrome, type 5 [MeSH Supplementary Concept]
- meckel syndrome, type 6 [MeSH Supplementary Concept]
- megacystis microcolon intestinal hypoperistalsis syndrome [MeSH Supplementary Concept]
- megalencephaly cutis marmorata telangiectatica congenita [MeSH Supplementary Concept]
- megarbane jalkh syndrome [MeSH Supplementary Concept]
- megarbane syndrome [MeSH Supplementary Concept]
- mehes syndrome [MeSH Supplementary Concept]
- melhem fahl syndrome [MeSH Supplementary Concept]
- mental retardation, buenos aires type [MeSH Supplementary Concept]
- mental retardation, microcephaly, epilepsy, and coarse face [MeSH Supplementary Concept]
- mesomelia-synostoses syndrome [MeSH Supplementary Concept]
- mesomelic limb shortening and bowing [MeSH Supplementary Concept]
- michels caskey syndrome [MeSH Supplementary Concept]
- microcephaly albinism digital anomalies syndrome [MeSH Supplementary Concept]
- microcephaly seizures mental retardation heart disorders [MeSH Supplementary Concept]
- microcephaly, growth retardation, cataract, hearing loss, and unusual appearance [MeSH Supplementary Concept]
- microdontia hypodontia short stature [MeSH Supplementary Concept]
- microspherophakia with hernia [MeSH Supplementary Concept]
- mousa al din al nassar syndrome [MeSH Supplementary Concept]
- mucolipidosis II alpha beta [MeSH Supplementary Concept]
- muller barth menger syndrome [MeSH Supplementary Concept]
- multiple congenital anomalies syndrome with cloverleaf skull [MeSH Supplementary Concept]
- multiple pterygium syndrome [MeSH Supplementary Concept]
- nablus mask-like facial syndrome [MeSH Supplementary Concept]
- nasopalpebral lipoma coloboma syndrome [MeSH Supplementary Concept]
- nasopharyngeal teratoma with dandy walker diaphragmatic hernia [MeSH Supplementary Concept]
- neu laxova syndrome [MeSH Supplementary Concept]
- neurofaciodigitorenal syndrome [MeSH Supplementary Concept]
- novak syndrome [MeSH Supplementary Concept]
- oculocerebral hypopigmentation syndrome type preus [MeSH Supplementary Concept]
- oculootoradial syndrome [MeSH Supplementary Concept]
- oculopalatocerebral syndrome [MeSH Supplementary Concept]
- oculorenocerebellar syndrome [MeSH Supplementary Concept]
- oslam syndrome [MeSH Supplementary Concept]
- palant cleft palate syndrome [MeSH Supplementary Concept]
- pallister W syndrome [MeSH Supplementary Concept]
- patterson pseudoleprechaunism syndrome [MeSH Supplementary Concept]
- penoscrotal transposition [MeSH Supplementary Concept]
- perisylvian syndrome [MeSH Supplementary Concept]
- pfeiffer kapferer syndrome [MeSH Supplementary Concept]
- pfeiffer mayer syndrome [MeSH Supplementary Concept]
- pfeiffer palm teller syndrome [MeSH Supplementary Concept]
- pfeiffer tietze welte syndrome [MeSH Supplementary Concept]
- piepkorn karp hickok syndrome [MeSH Supplementary Concept]
- pierson syndrome [MeSH Supplementary Concept]
- pilotto syndrome [MeSH Supplementary Concept]
- pituitary hormone deficiency, combined, 1 [MeSH Supplementary Concept]
- pituitary hormone deficiency, combined, 4 [MeSH Supplementary Concept]
- pointer syndrome [MeSH Supplementary Concept]
- polycystic kidney disease, potter type I, with microbrachycephaly, hypertelorism, and brachymelia [MeSH Supplementary Concept]
- powell chandra saal syndrome [MeSH Supplementary Concept]
- preaxial deficiency, postaxial polydactyly and hypospadias [MeSH Supplementary Concept]
- premature aging, okamoto type [MeSH Supplementary Concept]
- primrose syndrome [MeSH Supplementary Concept]
- pseudoaminopterin syndrome [MeSH Supplementary Concept]
- pterygium colli mental retardation digital anomalies [MeSH Supplementary Concept]
- qazi markouizos syndrome [MeSH Supplementary Concept]
- radial defect robin sequence [MeSH Supplementary Concept]
- radial hypoplasia, triphalangeal thumbs and hypospadias [MeSH Supplementary Concept]
- radio-ulnar synostosis type 1 [MeSH Supplementary Concept]
- radio-ulnar synostosis type 2 [MeSH Supplementary Concept]
- raine syndrome [MeSH Supplementary Concept]
- ramos arroyo clark syndrome [MeSH Supplementary Concept]
- rasmussen johnsen thomsen syndrome [MeSH Supplementary Concept]
- renal hepatic pancreatic dysplasia dandy walker cyst [MeSH Supplementary Concept]
- renal tubular dysgenesis with choanal atresia and athelia [MeSH Supplementary Concept]
- rozin hertz goodman syndrome [MeSH Supplementary Concept]
- rudiger syndrome [MeSH Supplementary Concept]
- ruvalcaba syndrome [MeSH Supplementary Concept]
- saal bulas syndrome [MeSH Supplementary Concept]
- sackey sakati aur syndrome [MeSH Supplementary Concept]
- sacral defect and anterior sacral meningocele [MeSH Supplementary Concept]
- sacral meningocele conotruncal heart defects [MeSH Supplementary Concept]
- samson viljoen syndrome [MeSH Supplementary Concept]
- sanderson fraser syndrome [MeSH Supplementary Concept]
- sandhaus Ben-Ami syndrome [MeSH Supplementary Concept]
- say field coldwell syndrome [MeSH Supplementary Concept]
- say meyer syndrome [MeSH Supplementary Concept]
- say syndrome [MeSH Supplementary Concept]
- scalp ear nipple syndrome [MeSH Supplementary Concept]
- schaefer stein oshman syndrome [MeSH Supplementary Concept]
- scott bryant graham syndrome [MeSH Supplementary Concept]
- seaver cassidy syndrome [MeSH Supplementary Concept]
- seckel like syndrome type buebel [MeSH Supplementary Concept]
- seemanova lesny syndrome [MeSH Supplementary Concept]
- seow najjar syndrome [MeSH Supplementary Concept]
- sharma kapoor ramji syndrome [MeSH Supplementary Concept]
- short stature, mental retardation, callosal agenesis, heminasal hypoplasia, microphthalmia, and atypical clefting [MeSH Supplementary Concept]
- shprintzen omphalocele syndrome [MeSH Supplementary Concept]
- siegler brewer carey syndrome [MeSH Supplementary Concept]
- silengo lerone pelizza syndrome [MeSH Supplementary Concept]
- spondylocarpotarsal synostosis [MeSH Supplementary Concept]
- spondylohypoplasia, arthrogryposis and popliteal pterygium [MeSH Supplementary Concept]
- stargardt macular degeneration absent or hypoplastic corpus callosum mental retardation and dysmorphic features [MeSH Supplementary Concept]
- stoelinga de koomen davis syndrome [MeSH Supplementary Concept]
- tamari goodman syndrome [MeSH Supplementary Concept]
- teebi shaltout syndrome [MeSH Supplementary Concept]
- teeth noneruption of with maxillary hypoplasia and genu valgum [MeSH Supplementary Concept]
- tetra-amelia with pulmonary hypoplasia [MeSH Supplementary Concept]
- tetraamelia multiple malformations [MeSH Supplementary Concept]
- thakker donnai syndrome [MeSH Supplementary Concept]
- thomas jewett raines syndrome [MeSH Supplementary Concept]
- thomas syndrome [MeSH Supplementary Concept]
- thoracolaryngopelvic dysplasia [MeSH Supplementary Concept]
- thymic aplasia with fetal death [MeSH Supplementary Concept]
- tibia, absence or hypoplasia of, with polydactyly, retrocerebellar arachnoid cyst, and other anomalies [MeSH Supplementary Concept]
- tollner horst manzke syndrome [MeSH Supplementary Concept]
- tricho-dento-osseous syndrome 1 [MeSH Supplementary Concept]
- triphalangeal thumbs brachyectrodactyly [MeSH Supplementary Concept]
- trisomy 18-Like syndrome [MeSH Supplementary Concept]
- tsukahara syndrome [MeSH Supplementary Concept]
- ulnar-mammary syndrome [MeSH Supplementary Concept]
- urioste Martinez-Frias syndrome [MeSH Supplementary Concept]
- urogenital adysplasia [MeSH Supplementary Concept]
- uropathy distal obstructive polydactyly [MeSH Supplementary Concept]
- uruguay faciocardiomusculoskeletal syndrome [MeSH Supplementary Concept]
- van der woude syndrome [MeSH Supplementary Concept]
- van der woude syndrome 2 [MeSH Supplementary Concept]
- van maldergem wetzburger verloes syndrome [MeSH Supplementary Concept]
- velofacioskeletal syndrome [MeSH Supplementary Concept]
- vohwinkel syndrome [MeSH Supplementary Concept]
- walbaum titran durieux crepin syndrome [MeSH Supplementary Concept]
- warburg sjo fledelius syndrome [MeSH Supplementary Concept]
- weaver syndrome [MeSH Supplementary Concept]
- weyers acrofacial dysostosis [MeSH Supplementary Concept]
- white forelock with malformations [MeSH Supplementary Concept]
- wiedemann grosse dibbern syndrome [MeSH Supplementary Concept]
- winchester syndrome [MeSH Supplementary Concept]
- winter harding hyde syndrome [MeSH Supplementary Concept]
- woolly hair, hypotrichosis, everted lower lip and outstanding ears [MeSH Supplementary Concept]
- yemenite deaf-blind hypopigmentation syndrome [MeSH Supplementary Concept]
- yim ebbin syndrome [MeSH Supplementary Concept]
- zadik barak levin syndrome [MeSH Supplementary Concept]
- zimmerman laband syndrome [MeSH Supplementary Concept]
See also
- intellectual disability [MeSH Descriptor]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Anomalies congenital multiple [MedDRA LLT]
- Anomaly congenital multiple (NOS) [MedDRA LLT]
- MALFORMATIONS MULTIPLE [WHO-ART Preferred Term]
- Malformations multiple [MedDRA LLT]
- Multiple Abnormalities [NCIt concept]
- Multiple Congenital Anomalies [NCIt concept]
- Multiple congenital abnormalities [MedDRA Preferred Term]
- Multiple congenital anomalies [MedDRA LLT]
- Multiple congenital anomalies (disorder) [Inactive SNOMED CT concept]
- Multiple congenital anomalies (morphologic abnormality) [Inactive SNOMED CT concept]
- Multiple congenital malformations [MedDRA LLT]
- Multiple congenital malformations (disorder) [Inactive SNOMED CT concept]
- congenital anomaly nos/multiple [ICPC-2 Rubric]
- multiple congenital anomalies, nos [SNOMED Notion]

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