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82354003: Multiple system malformation syndrome (disorder)

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

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

1219 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Multiple system malformation syndrome Pathological process Pathological developmental process true Inferred relationship Some 1
Multiple system malformation syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Some 1
Multiple system malformation syndrome Is a Multisystem disorder false Inferred relationship Some
Multiple system malformation syndrome Is a Congenital malformation syndrome true Inferred relationship Some
Multiple system malformation syndrome Associated morphology Congenital malformation false Inferred relationship Some
Multiple system malformation syndrome Is a Multiple congenital malformations false Inferred relationship Some
Multiple system malformation syndrome Occurrence Congenital true Inferred relationship Some 1
Multiple system malformation syndrome Associated morphology Developmental abnormality false Inferred relationship Some 1
Multiple system malformation syndrome Occurrence Congenital false Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
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 Is a True Multiple system malformation syndrome Inferred relationship Some
Smith-Magenis syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
Rieger syndrome Is a False 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 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 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-lymphoedema syndrome Is a False Multiple system malformation syndrome Inferred relationship Some
Vertebral abnormalities, anal atresia, cardiac abnormalities, tracheo-oesophageal fistula, renal anomalies, limb defects syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
Laurence-Moon syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
Shprintzen syndrome Is a False Multiple system malformation syndrome Inferred relationship Some
Myhre syndrome Is a False Multiple system malformation syndrome Inferred relationship Some
Oculofaciocardiodental syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
Genitopatellar syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
McKusick Kaufman syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
Manitoba oculotrichoanal 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
Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
C syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
Boder syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
Pili torti with developmental delay and neurological abnormality syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
Tetraamelia with multiple malformation syndrome 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 Is a True Multiple system malformation syndrome Inferred relationship Some
VACTERL syndrome with hydrocephalus Is a True Multiple system malformation syndrome Inferred relationship Some
Microcephaly with cardiac defect and lung malsegmentation syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
Microcephaly cardiomyopathy syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
Uveal coloboma with cleft lip and palate and intellectual disability syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
Disorder of sex development with intellectual disability syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
Cleft palate with stapes fixation and oligodontia syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
X-linked intellectual disability Cabezas type Is a True Multiple system malformation syndrome Inferred relationship Some
Vici syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
Taurodontia with absent teeth and sparse hair syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
Haim Munk syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
Timothy syndrome type 1 Is a False Multiple system malformation syndrome Inferred relationship Some
Timothy syndrome type 2 Is a False Multiple system malformation syndrome Inferred relationship Some
Cardiocranial syndrome Pfeiffer type Is a True Multiple system malformation syndrome Inferred relationship Some
Cardiospondylocarpofacial syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
Anonychia with microcephaly syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
Anophthalmia and megalocornea with cardiopathy and skeletal anomalies syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
Aplasia cutis with myopia syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
Arthrogryposis with renal dysfunction and cholestasis syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
Bosley Salih Alorainy syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
Braddock syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
Brain calcification Rajab type Is a True Multiple system malformation syndrome Inferred relationship Some
Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
Cholestasis with pigmentary retinopathy and cleft palate syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
Cooper Jabs syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
3MC syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
Craniosynostosis, anal anomaly, porokeratosis syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
Chondrodysplasia with disorder of sex development syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
Cervical hypertrichosis and peripheral neuropathy syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
Aniridia, ptosis, intellectual disability, familial obesity syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
Hair defect with photosensitivity and intellectual disability syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
Dahlberg Borer Newcomer syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
Deaf blind hypopigmentation syndrome Yemenite type Is a True Multiple system malformation syndrome Inferred relationship Some
Developmental malformation, deafness, dystonia syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
Diaphanospondylodysostosis Is a True Multiple system malformation syndrome Inferred relationship Some
Diaphragmatic defect, limb deficiency, skull defect syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
Siegler Brewer Carey syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
Branchiogenic deafness syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
Hirschsprung disease with nail hypoplasia and dysmorphism Is a True Multiple system malformation syndrome Inferred relationship Some
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
Hydrocephalus with obesity and hypogonadism syndrome 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 Is a True Multiple system malformation syndrome Inferred relationship Some
Bilateral microtia with deafness and cleft palate syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
BRESEK syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
Lipodystrophy, intellectual disability, deafness syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
Lowry MacLean syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
DOORS syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
Intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, obesity syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
Hypogonadism with anosmia Is a True Multiple system malformation syndrome Inferred relationship Some
Johnson neuroectodermal syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
Oculo-palato-cerebral syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
Bamforth Lazarus syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
Congenital cataract with deafness and hypogonadism syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
Congenital cataract with hypertrichosis and intellectual disability syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome Is a False Multiple system malformation syndrome Inferred relationship Some
Congenital cataract, nephropathy, encephalopathy syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
Congenital intrauterine infection-like syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
Gomez Lopez Hernandez syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
Matthew Wood syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
Galloway Mowat syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
Osteosclerosis, ichthyosis, premature ovarian failure syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
Ackerman syndrome Is a True Multiple system malformation syndrome Inferred relationship Some

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Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

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