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82354003: Multiple system malformation syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
125281000077110 syndrome de malformations multisystémiques fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
136605019 Multiple system malformation syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
397731000077114 syndrome de malformations multisystémiques (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
823759016 Multiple system malformation syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core


1192 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
syndrome de malformations multisystémiques Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
syndrome de malformations multisystémiques morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 1
syndrome de malformations multisystémiques est un(e) (attribut) Multisystem disorder (disorder) false Inferred relationship Some
syndrome de malformations multisystémiques est un(e) (attribut) Congenital malformation syndrome (disorder) true Inferred relationship Some
syndrome de malformations multisystémiques morphologie associée (attribut) Congenital malformation false Inferred relationship Some
syndrome de malformations multisystémiques est un(e) (attribut) Multiple congenital malformations false Inferred relationship Some
syndrome de malformations multisystémiques survenue (attribut) congénital true Inferred relationship Some 1
syndrome de malformations multisystémiques morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 1
syndrome de malformations multisystémiques survenue (attribut) congénital false Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
Multiple malformation syndrome with early overgrowth (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Duhamel's syndrome (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
syndrome cérébrocostomandibulaire (trouble) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
syndrome de Bardet-Biedl est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Multiple malformation syndrome due to non-infectious environmental agents (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Jarcho-Levin syndrome est un(e) (attribut) False syndrome de malformations multisystémiques Inferred relationship Some
Multiple malformation syndrome with unusual brain and/or neuromuscular findings est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Multiple malformation syndrome with facial defects as major feature est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
VACTEL syndrome est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Moore-Federman syndrome est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Johanson-Blizzard syndrome est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Multiple malformation syndrome, moderate short stature, facial est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Mulibrey nanism syndrome est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Distichiasis-lymphedema syndrome est un(e) (attribut) False syndrome de malformations multisystémiques Inferred relationship Some
Vertebral abnormalities, anal atresia, cardiac abnormalities, tracheo-esophageal fistula, renal anomalies, limb defects syndrome (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Laurence-Moon syndrome est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Shprintzen syndrome est un(e) (attribut) False syndrome de malformations multisystémiques Inferred relationship Some
Myhre syndrome est un(e) (attribut) False syndrome de malformations multisystémiques Inferred relationship Some
syndrome oculo-facio-cardio-dentaire est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Genitopatellar syndrome est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Manitoba oculotrichoanal syndrome est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
syndrome d'Ochoa est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Leprechaunism syndrome est un(e) (attribut) False syndrome de malformations multisystémiques Inferred relationship Some
Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Trigonocephaly C syndrome (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Odontoma dysphagia syndrome (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Pili torti with developmental delay and neurological abnormality syndrome (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Tetraamelia with multiple malformation syndrome (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Abruzzo Erickson syndrome est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
X-linked intellectual disability Stocco Dos Santos type (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Vertebral abnormality, anal atresia, cardiac abnormality, tracheo-esophageal fistula, renal anomaly, limb defect syndrome with hydrocephalus (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Microcephalus cardiomyopathy syndrome (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Disorder of sex development with intellectual disability syndrome (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Cleft palate with stapes fixation and oligodontia syndrome (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
X-linked intellectual disability Cabezas type (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Vici syndrome (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Taurodontia with absent teeth and sparse hair syndrome (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Haim Munk syndrome (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Timothy syndrome type 1 (disorder) est un(e) (attribut) False syndrome de malformations multisystémiques Inferred relationship Some
Timothy syndrome type 2 (disorder) est un(e) (attribut) False syndrome de malformations multisystémiques Inferred relationship Some
Cardiocranial syndrome Pfeiffer type (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Cardiospondylocarpofacial syndrome (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Anonychia with microcephaly syndrome (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Anophthalmia and megalocornea with cardiopathy and skeletal anomalies syndrome (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Aplasia cutis with myopia syndrome (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Arthrogryposis with renal dysfunction and cholestasis syndrome (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Bosley Salih Alorainy syndrome (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Braddock syndrome (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Brain calcification Rajab type (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Aural atresia with multiple congenital anomalies and intellectual disability syndrome (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Craniofacial ulnar renal syndrome (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Craniosynostosis, anal anomaly, porokeratosis syndrome (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Chondrodysplasia with disorder of sex development syndrome (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
syndrome d'hypertrichose cervicale-neuropathie périphérique est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Aniridia, ptosis, intellectual disability, familial obesity syndrome (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Hair defect with photosensitivity and intellectual disability syndrome (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Lymphedema hypoparathyroidism syndrome (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
surdité-cécité-hypopigmentation est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Developmental malformation, deafness, dystonia syndrome (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Diaphanospondylodysostosis (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Siegler Brewer Carey syndrome (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Branchiogenic deafness syndrome (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Hirschsprung disease with nail hypoplasia and dysmorphism (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Hydrocephalus with obesity and hypogonadism syndrome (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Biemond's syndrome est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Biemond syndrome type 2 (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Bilateral microtia with deafness and cleft palate syndrome (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Brain anomaly, severe mental retardation, ectodermal dysplasia, skeletal deformity, ear anomaly, kidney dysplasia syndrome (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Lipodystrophy, intellectual disability, deafness syndrome (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Lowry MacLean syndrome (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
MEHMO syndrome est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
dysplasie olfactogénitale est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Johnson neuroectodermal syndrome (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Oculopalatocerebral syndrome (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Bamforth Lazarus syndrome (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Congenital cataract with deafness and hypogonadism syndrome (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome (disorder) est un(e) (attribut) False syndrome de malformations multisystémiques Inferred relationship Some
Congenital cataract, nephropathy, encephalopathy syndrome (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
syndrome de pseudo-infection intra-utérine congénitale est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Gomez Lopez Hernandez syndrome (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
syndrome d'agénésie du corps calleux-microcéphalie-petite taille est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Matthew Wood syndrome est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Galloway Mowat syndrome (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Ackerman syndrome (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
syndrome d'utérus double-hémivagin-agénésie rénale est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Duane anomaly, myopathy, scoliosis syndrome (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Dyschondrosteosis and nephritis syndrome (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some

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