82354003: Multiple system malformation syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome

\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome

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

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Multiple system malformation syndrome	Is a	Multiple congenital malformations	false	Inferred relationship	Some
Multiple system malformation syndrome	Occurrence	Congenital	false	Inferred relationship	Some
Multiple system malformation syndrome	Is a	Multisystem disorder	false	Inferred relationship	Some
Multiple system malformation syndrome	Is a	Congenital malformation syndrome (disorder)	true	Inferred relationship	Some
Multiple system malformation syndrome	Associated morphology	Congenital malformation	false	Inferred relationship	Some
Multiple system malformation syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Multiple system malformation syndrome	Associated morphology	Developmental anomaly	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	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-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
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 (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	False	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
BRESEK syndrome	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	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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Id	Description	Lang	Type	Status	Case?	Module
136605019	Multiple system malformation syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
136606018	Multiple system malformation syndrome, NOS	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
823759016	Multiple system malformation syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5856131000172111	syndrome d'anomalies congénitales multiples	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
5087921000172118	malformatiesyndroom met betrokkenheid van meerdere systemen	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
5087931000172115	polymalformatief syndroom van multipele systemen	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)