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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
Ring chromosome 8 syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Ring chromosome 9 syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Mosaic trisomy 14 syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
14q partial distal trisomy syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
14q11.2 microduplication syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
14q12 microdeletion syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Distal monosomy 14q syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
14q partial proximal trisomy syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Mosaic trisomy 5 syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Tetrasomy 5p syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
5q35 microduplication syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Distal trisomy 5q syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
5p partial monosomy syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
5q31.3 microdeletion syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
5q14.3 microdeletion syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
5q22.2 deletion syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
22q11 partial monosomy syndrome Is a False Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Chromosome Xp22.3 microdeletion syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Atypical Norrie disease due to monosomy Xp11.3 Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
16p12.2 microdeletion syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
16p13.11 microdeletion syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
49,XXXYY syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Chromosome Xq27.3q28 duplication syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Choroideremia with deafness and obesity syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Microduplication Xp11.22p11.23 syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Distal monosomy 7q36 syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Xq12-q13.3 duplication syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Double Y syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
48,XYYY syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
49,XYYYY syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
3q29 microdeletion syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
3q26q27 microdeletion syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
3q13 microdeletion syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
6p22 microdeletion syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
17q23.1q23.2 microdeletion syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
17q12 microdeletion syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
12p12.1 microdeletion syndrome Is a False Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Non-distal monosomy 12q Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Distal monosomy 15q syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
15q14 microdeletion syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Microdeletion of chromosome 15q24 Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Mosaic trisomy 15 syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
16p13.3 microduplication syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Distal trisomy 16q Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
2q31.1 microdeletion syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
2q33.1 microdeletion syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
2q32q33 microdeletion syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
2p21 microdeletion syndrome without cystinuria Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
2p21 microdeletion syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Tetrasomy 12p syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Mosaic trisomy 8 syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Mosaic trisomy 12 syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Mosaic trisomy 16 syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Mosaic trisomy 17 syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Mosaic trisomy 2 syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Mosaic trisomy 3 syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Monosomy 13q14 syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Distal monosomy 13q syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Monosomy 13q34 syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
XK aprosencephaly syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Syndromic X-linked intellectual disability due to jumonji at-rich interactive domain 1c mutation Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, hydranencephaly syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Arginine-glutamic acid dipeptide repeats-related neurodevelopmental syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
TBC1 domain containing kinase-related intellectual disability syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Lethal hydranencephaly, diaphragmatic hernia syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
X-linked cerebral, cerebellar, coloboma syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
X-linked intellectual developmental disorder Christianson type Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Congenital generalized hypercontractile muscle stiffness syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
NIMA related kinase 9 lethal skeletal dysplasia Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Stromme syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Microcephalic cortical malformations, short stature due to rotatin deficiency Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Short stature, advanced bone age, early-onset osteoarthritis syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Severe oculo-renal-cerebellar syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Epibulbar lipodermoid, preauricular appendage, polythelia syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Autosomal dominant deafness with onychodystrophy syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Severe myopia, generalized joint laxity, short stature syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Ring finger protein 13-related severe early-onset epileptic encephalopathy Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Pancreatic agenesis, holoprosencephaly syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Anterior maxillary protrusion, strabismus, intellectual disability syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
9q33.3q34.11 microdeletion syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
17q24.2 microdeletion syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
19p13.3 microduplication syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Timothy syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Microphthalmia, microtia, fetal akinesia syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital anomalies, enteropathy syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Hydrops, lactic acidosis, sideroblastic anemia, multisystemic failure syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Symptomatic form of Coffin-Lowry syndrome in female carrier Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Fatty acyl-coenzyme A reductase 1 deficiency Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
X-linked intellectual disability, short stature, overweight syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Congenital vertebral, cardiac, renal anomalies syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Townes-Brocks syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
[X]Other congenital malformation syndromes with other skeletal changes Is a False Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Congenital malformation syndrome with other skeletal changes NOS Is a False Multiple system malformation syndrome Inferred relationship Existential restriction modifier

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