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82354003: Multiple system malformation syndrome (disorder)

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
136605019 Multiple system malformation syndrome en Synonym Active Case insensitive SNOMED CT core
823759016 Multiple system malformation syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

1219 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Multiple system malformation syndrome Pathological process Pathological developmental process true Inferred relationship Some 1
Multiple system malformation syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Some 1
Multiple system malformation syndrome Is a Multisystem disorder false Inferred relationship Some
Multiple system malformation syndrome Is a Congenital malformation syndrome true Inferred relationship Some
Multiple system malformation syndrome Associated morphology Congenital malformation false Inferred relationship Some
Multiple system malformation syndrome Is a Multiple congenital malformations false Inferred relationship Some
Multiple system malformation syndrome Occurrence Congenital true Inferred relationship Some 1
Multiple system malformation syndrome Associated morphology Developmental abnormality false Inferred relationship Some 1
Multiple system malformation syndrome Occurrence Congenital false Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Ring chromosome 9 syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
Mosaic trisomy 14 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 Is a True Multiple system malformation syndrome Inferred relationship Some
14q12 microdeletion syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
Distal monosomy 14q syndrome 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 Is a True Multiple system malformation syndrome Inferred relationship Some
Tetrasomy 5p syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
5q35 microduplication syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
Distal trisomy 5q syndrome 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 Is a True Multiple system malformation syndrome Inferred relationship Some
5q14.3 microdeletion syndrome 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
Xp22.3 microdeletion syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
Atypical Norrie disease due to monosomy Xp11.3 Is a True Multiple system malformation syndrome Inferred relationship Some
16p12.2 microdeletion syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
16p13.11 microdeletion syndrome 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 Is a True Multiple system malformation syndrome Inferred relationship Some
Choroideraemia with deafness and obesity syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
Microduplication Xp11.22p11.23 syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
Distal monosomy 7q36 Is a True Multiple system malformation syndrome Inferred relationship Some
Xq12-q13.3 duplication syndrome 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 Is a True Multiple system malformation syndrome Inferred relationship Some
49,XYYYY syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
3q29 microdeletion syndrome 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 Is a True Multiple system malformation syndrome Inferred relationship Some
6p22 microdeletion syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
17q23.1q23.2 microdeletion syndrome 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 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 Is a True Multiple system malformation syndrome Inferred relationship Some
2q31.1 microdeletion syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
2q33.1 microdeletion syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
2q32q33 microdeletion syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
2p21 microdeletion syndrome without cystinuria Is a True Multiple system malformation syndrome Inferred relationship Some
2p21 microdeletion syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
Tetrasomy 12p syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
Mosaic trisomy 8 syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
Mosaic trisomy 12 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 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 Is a True Multiple system malformation syndrome Inferred relationship Some
XK aprosencephaly syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
Syndromic X-linked intellectual disability due to JARID1C mutation 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
TELO2-related intellectual disability, neurodevelopmental 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 Is a True Multiple system malformation syndrome Inferred relationship Some
X-linked cerebral, cerebellar, coloboma syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
Christianson syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
Congenital generalised 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 Is a True Multiple system malformation syndrome Inferred relationship Some
Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome 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 RTTN deficiency Is a True Multiple system malformation syndrome Inferred relationship Some
Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome 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 Is a True Multiple system malformation syndrome Inferred relationship Some
Epibulbar lipodermoid, preauricular appendage, polythelia syndrome 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, generalised joint laxity, short stature syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
RNF13-related severe early-onset epileptic encephalopathy 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 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 Is a True Multiple system malformation syndrome Inferred relationship Some
19p13.3 microduplication syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
Timothy syndrome 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
MIRAGE syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
Hydrops, lactic acidosis, sideroblastic anaemia, multisystemic failure syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
Symptomatic form of Coffin-Lowry syndrome in female carrier Is a True Multiple system malformation syndrome Inferred relationship Some
Fatty acyl-CoA reductase 1 deficiency 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 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
Aglossia-adactyly syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
Borjeson-Forssman-Lehmann syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
Coffin-Siris syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
Kundrat's syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
Osteochondrodysplasia 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

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Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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