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
Ring chromosome 8 syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Ring chromosome 9 syndrome	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Mosaic trisomy 14 syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
14q partial distal trisomy syndrome	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
14q11.2 microduplication syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
14q12 microdeletion syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Distal monosomy 14q syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
14q partial proximal trisomy syndrome	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Mosaic trisomy 5 syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Tetrasomy 5p syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
5q35 microduplication syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Distal trisomy 5q syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
5p partial monosomy syndrome	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
5q31.3 microdeletion syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
5q14.3 microdeletion syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
5q22.2 deletion syndrome	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
monosomie partielle 22q11	Is a	False	Multiple system malformation syndrome	Inferred relationship	Some
Chromosome Xp22.3 microdeletion syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Atypical Norrie disease due to monosomy Xp11.3 (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
16p12.2 microdeletion syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
16p13.11 microdeletion syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
49,XXXYY syndrome	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Chromosome Xq27.3q28 duplication syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Choroideremia with deafness and obesity syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Microduplication Xp11.22p11.23 syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Distal monosomy 7q36 syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Xq12-q13.3 duplication syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Double Y syndrome	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
48,XYYY syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
49,XYYYY syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
3q29 microdeletion syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
3q26q27 microdeletion syndrome	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
3q13 microdeletion syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
6p22 microdeletion syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
17q23.1q23.2 microdeletion syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
17q12 microdeletion syndrome	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
12p12.1 microdeletion syndrome	Is a	False	Multiple system malformation syndrome	Inferred relationship	Some
Non-distal monosomy 12q	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Distal monosomy 15q	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
15q14 microdeletion syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
15q24 microdeletion	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Mosaic trisomy 15 syndrome	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
16p13.3 microduplication syndrome	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Distal trisomy 16q (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
2q31.1 microdeletion syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
2q33.1 microdeletion syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
2q32q33 microdeletion syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
2p21 microdeletion syndrome without cystinuria (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
2p21 microdeletion syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Tetrasomy 12p syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Mosaic trisomy 8 syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Mosaic trisomy 12 syndrome	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Mosaic trisomy 16 syndrome	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Mosaic trisomy 17 syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Mosaic trisomy 2 syndrome	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Mosaic trisomy 3 syndrome	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Monosomy 13q14 syndrome	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Distal monosomy 13q syndrome	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Monosomy 13q34 syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
XK aprosencephaly syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Syndromic X-linked intellectual disability due to jumonji at-rich interactive domain 1c mutation (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
MARCH syndrome	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
RERE-related neurodevelopmental syndrome	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
TBCK-related intellectual disability syndrome	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Lethal hydranencephaly, diaphragmatic hernia syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
X-linked cerebral, cerebellar, coloboma syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Christianson syndrome	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Congenital generalized hypercontractile muscle stiffness syndrome	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
NEK9-related lethal skeletal dysplasia	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Stromme syndrome	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Microcephalic cortical malformations, short stature due to rotatin deficiency (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Short stature, advanced bone age, early-onset osteoarthritis syndrome	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Severe oculo-renal-cerebellar syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Epibulbar lipodermoid, preauricular appendage, polythelia syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Autosomal dominant deafness with onychodystrophy syndrome	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Severe myopia, generalized joint laxity, short stature syndrome	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Ring finger protein 13-related severe early-onset epileptic encephalopathy (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Pancreatic agenesis, holoprosencephaly syndrome	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Anterior maxillary protrusion, strabismus, intellectual disability syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
9q33.3q34.11 microdeletion syndrome	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
17q24.2 microdeletion syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
19p13.3 microduplication syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Timothy syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Microphthalmia, microtia, fetal akinesia syndrome	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital anomalies, enteropathy syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Hydrops, lactic acidosis, sideroblastic anemia, multisystemic failure syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Symptomatic form of Coffin-Lowry syndrome in female carrier (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Fatty acyl-coenzyme A reductase 1 deficiency (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
X-linked intellectual disability, short stature, overweight syndrome	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Congenital vertebral, cardiac, renal anomalies syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Diastrophic dysplasia	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Lethal occipital encephalocele, skeletal dysplasia syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome	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)