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82354003: Multiple system malformation syndrome (disorder)

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

Descriptions:

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
823759016 Multiple system malformation syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

1250 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 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
22q11 partial monosomy syndrome 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
Cyclin dependent kinase 13-related congenital heart defects, intellectual disability, facial dysmorphism syndrome (disorder) Is a True Multiple system malformation syndrome Inferred relationship Some

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