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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 Reference Sets
136605019 Multiple system malformation syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
823759016 Multiple system malformation syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
2348401000005114 Multisystemmisdannelsessyndrom da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept) Danish language reference set (foundation metadata concept): Preferred (foundation metadata concept)

1049 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Multiple system malformation syndrome Is a Multiple kongenitte misdannelser false Inferred relationship Some
Multiple system malformation syndrome Occurrence Congenital false Inferred relationship Some
Multiple system malformation syndrome Is a multisystemsygdom false Inferred relationship Some
Multiple system malformation syndrome Is a Congenital malformation syndrome (disorder) true Inferred relationship Some
Multiple system malformation syndrome Associated morphology Kongenit malformation false Inferred relationship Some
Multiple system malformation syndrome Occurrence Congenital true Inferred relationship Some 1
Multiple system malformation syndrome Associated morphology dysgenese false Inferred relationship Some 1
Multiple system malformation syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Multiple system malformation syndrome Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group
Coffin-Siris syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
Osteochondrodysplasia syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
Laurence-Moon syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
Ochoa syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
Leprechaunism syndrome Is a False Multiple system malformation syndrome Inferred relationship Some
Pentalogy of Cantrell Is a True Multiple system malformation syndrome Inferred relationship Some
Multiple malformation syndrome with senile-like appearance Is a True Multiple system malformation syndrome Inferred relationship Some
Borjeson-Forssman-Lehmann syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
Kundrat's syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
Arteriohepatic dysplasia Is a True Multiple system malformation syndrome Inferred relationship Some
Hanhart's syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
Multiple malformation syndrome with limb defect as major feature Is a True Multiple system malformation syndrome Inferred relationship Some
Multiple malformation syndrome, small stature, without skeletal dysplasia (disorder) Is a True Multiple system malformation syndrome Inferred relationship Some
Rieger syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
Multiple malformation syndrome with early overgrowth Is a True Multiple system malformation syndrome Inferred relationship Some
Duhamel's syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
Cerebro-costo-mandibular syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
Bardet-Biedl syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
Multiple malformation syndrome due to non-infectious environmental agents (disorder) Is a True Multiple system malformation syndrome Inferred relationship Some
Jarcho-Levin syndrome Is a False Multiple system malformation syndrome Inferred relationship Some
Multiple malformation syndrome with unusual brain and/or neuromuscular findings Is a True Multiple system malformation syndrome Inferred relationship Some
Multiple malformation syndrome with facial defects as major feature (disorder) Is a True Multiple system malformation syndrome Inferred relationship Some
VACTEL syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
Moore-Federman syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
Johanson-Blizzard syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
Multiple malformation syndrome, moderate short stature, facial Is a True Multiple system malformation syndrome Inferred relationship Some
Mulibrey nanism syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
Distichiasis-lymphedema syndrome Is a False Multiple system malformation syndrome Inferred relationship Some
Aglossia-adactyly syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
Smith-Magenis syndrome (disorder) Is a True Multiple system malformation syndrome Inferred relationship Some
Vertebral abnormalities, anal atresia, cardiac abnormalities, tracheo-esophageal fistula, renal anomalies, limb defects syndrome (disorder) Is a True Multiple system malformation syndrome Inferred relationship Some
Shprintzens syndrom Is a False Multiple system malformation syndrome Inferred relationship Some
Myhre syndrome Is a False Multiple system malformation syndrome Inferred relationship Some
Oculofaciocardiodental syndrome (disorder) Is a True Multiple system malformation syndrome Inferred relationship Some
Genitopatellar syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation (disorder) Is a True Multiple system malformation syndrome Inferred relationship Some
Manitoba oculotrichoanal syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder) Is a True Multiple system malformation syndrome Inferred relationship Some
Trigonocephaly C syndrome (disorder) Is a True Multiple system malformation syndrome Inferred relationship Some
Odontoma dysphagia syndrome (disorder) Is a True Multiple system malformation syndrome Inferred relationship Some
Pili torti with developmental delay and neurological abnormality syndrome (disorder) Is a True Multiple system malformation syndrome Inferred relationship Some
Tetraamelia with multiple malformation syndrome (disorder) Is a True Multiple system malformation syndrome Inferred relationship Some
Abruzzo Erickson syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
X-linked intellectual disability Stocco Dos Santos type (disorder) Is a True Multiple system malformation syndrome Inferred relationship Some
Vertebral abnormality, anal atresia, cardiac abnormality, tracheo-esophageal fistula, renal anomaly, limb defect syndrome with hydrocephalus (disorder) Is a True Multiple system malformation syndrome Inferred relationship Some
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) Is a True Multiple system malformation syndrome Inferred relationship Some
Microcephalus cardiomyopathy syndrome (disorder) Is a True Multiple system malformation syndrome Inferred relationship Some
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) Is a True Multiple system malformation syndrome Inferred relationship Some
Disorder of sex development with intellectual disability syndrome (disorder) Is a True Multiple system malformation syndrome Inferred relationship Some
Cleft palate with stapes fixation and oligodontia syndrome (disorder) Is a True Multiple system malformation syndrome Inferred relationship Some
X-linked intellectual disability Cabezas type (disorder) Is a True Multiple system malformation syndrome Inferred relationship Some
Vici syndrome (disorder) Is a True Multiple system malformation syndrome Inferred relationship Some
Taurodontia with absent teeth and sparse hair syndrome (disorder) Is a True Multiple system malformation syndrome Inferred relationship Some
Haim Munk syndrome (disorder) Is a True Multiple system malformation syndrome Inferred relationship Some
Timothy syndrome type 1 (disorder) Is a True Multiple system malformation syndrome Inferred relationship Some
Timothy syndrome type 2 (disorder) Is a False Multiple system malformation syndrome Inferred relationship Some
Cardiocranial syndrome Pfeiffer type (disorder) Is a True Multiple system malformation syndrome Inferred relationship Some
Cardiospondylocarpofacial syndrome (disorder) Is a True Multiple system malformation syndrome Inferred relationship Some
Anonychia with microcephaly syndrome (disorder) Is a True Multiple system malformation syndrome Inferred relationship Some
Anophthalmia and megalocornea with cardiopathy and skeletal anomalies syndrome (disorder) Is a True Multiple system malformation syndrome Inferred relationship Some
Aplasia cutis with myopia syndrome (disorder) Is a True Multiple system malformation syndrome Inferred relationship Some
Arthrogryposis with renal dysfunction and cholestasis syndrome (disorder) Is a True Multiple system malformation syndrome Inferred relationship Some
Bosley Salih Alorainy syndrome (disorder) Is a True Multiple system malformation syndrome Inferred relationship Some
Braddock syndrome (disorder) Is a True Multiple system malformation syndrome Inferred relationship Some
Brain calcification Rajab type (disorder) Is a True Multiple system malformation syndrome Inferred relationship Some
Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome (disorder) Is a True Multiple system malformation syndrome Inferred relationship Some
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) Is a True Multiple system malformation syndrome Inferred relationship Some
Aural atresia with multiple congenital anomalies and intellectual disability syndrome (disorder) Is a True Multiple system malformation syndrome Inferred relationship Some
Craniofacial ulnar renal syndrome (disorder) Is a True Multiple system malformation syndrome Inferred relationship Some
Craniosynostosis, anal anomaly, porokeratosis syndrome (disorder) Is a True Multiple system malformation syndrome Inferred relationship Some
Chondrodysplasia with disorder of sex development syndrome (disorder) Is a True Multiple system malformation syndrome Inferred relationship Some
Cervical hypertrichosis and peripheral neuropathy syndrome (disorder) Is a True Multiple system malformation syndrome Inferred relationship Some
Aniridia, ptosis, intellectual disability, familial obesity syndrome (disorder) Is a True Multiple system malformation syndrome Inferred relationship Some
Hair defect with photosensitivity and intellectual disability syndrome (disorder) Is a True Multiple system malformation syndrome Inferred relationship Some
Lymphedema hypoparathyroidism syndrome (disorder) Is a True Multiple system malformation syndrome Inferred relationship Some
Deaf blind hypopigmentation syndrome Yemenite type (disorder) Is a True Multiple system malformation syndrome Inferred relationship Some
Developmental malformation, deafness, dystonia syndrome (disorder) Is a True Multiple system malformation syndrome Inferred relationship Some
Diaphanospondylodysostosis (disorder) Is a True Multiple system malformation syndrome Inferred relationship Some
Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder) Is a True Multiple system malformation syndrome Inferred relationship Some
Siegler Brewer Carey syndrome (disorder) Is a True Multiple system malformation syndrome Inferred relationship Some
Branchiogenic deafness syndrome (disorder) Is a True Multiple system malformation syndrome Inferred relationship Some
Hirschsprung disease with nail hypoplasia and dysmorphism (disorder) Is a True Multiple system malformation syndrome Inferred relationship Some
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome (disorder) Is a True Multiple system malformation syndrome Inferred relationship Some
Hydrocephalus with obesity and hypogonadism syndrome (disorder) Is a True Multiple system malformation syndrome Inferred relationship Some
Biemond's syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
Biemond syndrome type 2 (disorder) Is a True Multiple system malformation syndrome Inferred relationship Some
Bilateral microtia with deafness and cleft palate syndrome (disorder) Is a True Multiple system malformation syndrome Inferred relationship Some
Brain anomaly, severe mental retardation, ectodermal dysplasia, skeletal deformity, ear anomaly, kidney dysplasia syndrome (disorder) Is a True Multiple system malformation syndrome Inferred relationship Some
Lipodystrophy, intellectual disability, deafness syndrome (disorder) Is a True Multiple system malformation syndrome Inferred relationship Some
Lowry MacLean syndrome (disorder) Is a True Multiple system malformation syndrome Inferred relationship Some
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) Is a True Multiple system malformation syndrome Inferred relationship Some
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder) Is a True Multiple system malformation syndrome Inferred relationship Some
MEHMO syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
Hypogonadism with anosmia (disorder) Is a True Multiple system malformation syndrome Inferred relationship Some
Johnson neuroectodermal syndrome (disorder) Is a True Multiple system malformation syndrome Inferred relationship Some
Oculopalatocerebral syndrome (disorder) Is a True Multiple system malformation syndrome Inferred relationship Some
Bamforth Lazarus syndrome (disorder) Is a True Multiple system malformation syndrome Inferred relationship Some
Congenital cataract with deafness and hypogonadism syndrome (disorder) Is a True Multiple system malformation syndrome Inferred relationship Some
Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) Is a True Multiple system malformation syndrome Inferred relationship Some
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome (disorder) Is a False Multiple system malformation syndrome Inferred relationship Some
Congenital cataract, nephropathy, encephalopathy syndrome (disorder) Is a True Multiple system malformation syndrome Inferred relationship Some

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Reference Sets

Danish translated concepts reference set (foundation metadata concept)

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