82354003: malformatiesyndroom met betrokkenheid van meerdere systemen (aandoening)

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

\Disorder of foetus and/or newborn\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	multisysteemaandoening	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	gebrekkige ontwikkeling (afwijkende morfologie)	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
Pseudoleprechaunism syndrome Patterson type (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
RAB18, member RAS oncogene family deficiency (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
X-linked intellectual disability, craniofacioskeletal syndrome	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Microcephaly, polymicrogyria, corpus callosum agenesis syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Hydrocephalus, blue sclera, nephropathy syndrome	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
CK syndrome	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Craniosynostosis and dental anomalies syndrome	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Severe feeding difficulties, failure to thrive, microcephaly due to ASXL3 deficiency syndrome	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
syndroom van spondylocostale dysostose, hypospadie en verstandelijke beperking (aandoening)	Is a	False	Multiple system malformation syndrome	Inferred relationship	Some
Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Hypoplasia of pancreas, intestinal atresia, hypoplasia of gallbladder syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Acrodysplasia scoliosis (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Genitopalatocardiac syndrome	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Joint contracture, webbed neck, micrognathia, hypoplastic nipple syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Porencephaly, microcephaly, bilateral congenital cataract syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Ataxia, photosensitivity, short stature syndrome	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Ankyloblepharon filiforme adnatum with imperforate anus syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Spigelian hernia with cryptorchidism syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
NPHP3-related Meckel-like syndrome	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
FLOTCH syndrome	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
SCALP syndrome	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Didymosis aplasticosebacea (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Male emopamil-binding protein disorder with neurological defect	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Pontine tegmental cap dysplasia	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Dobrow syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Renal caliceal diverticuli and deafness syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Richieri Costa-da Silva syndrome	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Subaortic stenosis and short stature syndrome	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Holzgreve syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Port-wine nevi, mega cisterna magna, hydrocephalus syndrome	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Muscle eye brain disease with bilateral multicystic leukodystrophy	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Prune belly syndrome with pulmonic stenosis, intellectual disability and deafness (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Cross syndrome	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Focal dermal hypoplasia	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
VATER association	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Schwartz-Jampel syndrome	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Gillespie syndrome	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Megacystis, microcolon, hypoperistalsis syndrome	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Potocki-Shaffer syndrome	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Septo-optic dysplasia sequence	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Prader-Willi syndrome	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
11p15 deletion syndrome	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
12q15 deletion syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Stickler syndrome	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
12q24.31-q24.32 deletion syndrome	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Microcephalus microcornea syndrome of Seemanova type (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Distal monosomy 10q syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
2q23.1 microdeletion syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
7p22.1 microduplication syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
1q44 microdeletion syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
1q41q42 microdeletion syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Distal 22q11.2 microdeletion syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Ring chromosome 22 syndrome	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Monosomy 22 syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
22q11.2 duplication syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Distal trisomy 22q syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Distal 22q11.2 microduplication syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Mosaic trisomy 22 syndrome	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Tetrasomy 21 (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Ring chromosome 21 syndrome	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Paternal 20q13.2q13.3 microdeletion syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
20q13.33 microdeletion syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
distale monosomie 20q (aandoening)	Is a	False	Multiple system malformation syndrome	Inferred relationship	Some
20p13 microdeletion syndrome	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
20p12.3 microdeletion syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
20q11.2 microduplication syndrome	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Mosaic trisomy 20 syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Ring chromosome 20 syndrome	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
20p partial trisomy syndrome	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
1p31p32 microdeletion syndrome	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Distal monosomy 1q syndrome	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Mosaic trisomy 1 syndrome	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Trisomy 1q syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
1q21.1 microduplication syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Distal trisomy 1p36	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Ring chromosome 1 syndrome	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Ring chromosome 10 syndrome	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Ring chromosome 12 syndrome	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Ring chromosome 5 syndrome	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Ring chromosome 13 syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Ring chromosome 14 syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Ring chromosome 11 syndrome	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Ring chromosome 4 syndrome	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Ring chromosome 15 syndrome	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Ring chromosome 16 syndrome	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Ring chromosome 19 syndrome	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Ring chromosome 2 syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Ring chromosome 3 syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Ring chromosome 17 syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Ring chromosome 18 syndrome	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Ring chromosome Y syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Ring chromosome 6 syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Ring chromosome 7 syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Ring chromosome 8 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
8465311000146113	malformatiesyndroom met betrokkenheid van meerdere systemen	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8465321000146115	malformatiesyndroom met betrokkenheid van meerdere systemen (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8465331000146118	polymalformatief syndroom van multipele systemen	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)