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82354003: Multiple system malformation syndrome (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module
136605019 Multiple system malformation syndrome en Synonym Active Entire term case insensitive SNOMED CT core module
136606018 Multiple system malformation syndrome, NOS en Synonym Inactive Only initial character case insensitive SNOMED CT core module
823759016 Multiple system malformation syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

1220 descendants. Search Descendants:

Expanded Value Set

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

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