Congenital malformation syndrome

Multiple system malformation syndrome (disorder)
	Multiple system malformation syndrome
	malformatiesyndroom met betrokkenheid van meerdere systemen
	polymalformatief syndroom van multipele systemen

Id	82354003
Status	Primitive

Associated morphology	Morphologically abnormal structure
Occurrence	Congenital
Pathological process	Pathological developmental process

ICD-10 complex map reference set

Target	Q87.8
Rule	TRUE
Advice	ALWAYS Q87.8
Correlation	SNOMED CT source code to target map code correlation not specified

11p15 deletion syndrome

12p12.1 microdeletion syndrome

12q15 deletion syndrome

12q24.31-q24.32 deletion syndrome

14q partial distal trisomy syndrome

14q partial proximal trisomy syndrome

14q11.2 microduplication syndrome

14q12 microdeletion syndrome

15q14 microdeletion syndrome

15q24 microdeletion

16p12.2 microdeletion syndrome

16p13.11 microdeletion syndrome

16p13.3 microduplication syndrome

17q12 microdeletion syndrome

17q23.1q23.2 microdeletion syndrome

17q24.2 microdeletion syndrome

19p13.3 microduplication syndrome

1p31p32 microdeletion syndrome

1q21.1 microduplication syndrome

1q41q42 microdeletion syndrome

1q44 microdeletion syndrome

20p partial trisomy syndrome

20p12.3 microdeletion syndrome

20p13 microdeletion syndrome

20q11.2 microduplication syndrome

20q13.33 microdeletion syndrome

22q11.2 deletion syndrome

22q11.2 duplication syndrome

2p21 microdeletion syndrome

2p21 microdeletion syndrome without cystinuria

2q23.1 microdeletion syndrome

2q31.1 microdeletion syndrome

2q32q33 microdeletion syndrome

2q33.1 microdeletion syndrome

3q13 microdeletion syndrome

3q26q27 microdeletion syndrome

3q29 microdeletion syndrome

46,XX disorder of sex development with anorectal anomalies syndrome

46,XX disorder of sex development with skeletal anomalies syndrome

48,XYYY syndrome

49,XXXYY syndrome

49,XYYYY syndrome

5p partial monosomy syndrome

5q14.3 microdeletion syndrome

5q22.2 deletion syndrome

5q31.3 microdeletion syndrome

5q35 microduplication syndrome

6p22 microdeletion syndrome

7p22.1 microduplication syndrome

9q33.3q34.11 microdeletion syndrome

Abruzzo Erickson syndrome

Ackerman syndrome

Acrodysplasia scoliosis

Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome

Agenesis of corpus callosum and abnormal genitalia syndrome

Aglossia-adactyly syndrome

Alstrom syndrome

Aniridia, ptosis, intellectual disability, familial obesity syndrome

Aniridia, renal agenesis, psychomotor retardation syndrome

Ankyloblepharon filiforme adnatum with imperforate anus syndrome

Anonychia with microcephaly syndrome

Anophthalmia and megalocornea with cardiopathy and skeletal anomalies syndrome

Anterior maxillary protrusion, strabismus, intellectual disability syndrome

Aplasia cutis with myopia syndrome

Arteriohepatic dysplasia

Arthrogryposis with renal dysfunction and cholestasis syndrome

Ataxia, photosensitivity, short stature syndrome

Atypical Norrie disease due to monosomy Xp11.3

Auricular abnormality, cleft lip, ocular abnormality syndrome

Autosomal dominant deafness with onychodystrophy syndrome

Axial mesodermal dysplasia spectrum

Bamforth Lazarus syndrome

Bardet-Biedl syndrome

Biemond syndrome type 2

Biemond's syndrome

Bilateral microtia with deafness and cleft palate syndrome

Boder syndrome

Borjeson-Forssman-Lehmann syndrome

Bosley Salih Alorainy syndrome

Braddock syndrome

Brain calcification Rajab type

Branchial dysplasia, intellectual disability, inguinal hernia syndrome

Branchiogenic deafness syndrome

Branchiootic syndrome

BRESEK syndrome

C syndrome

Cardiocranial syndrome Pfeiffer type

Cardiospondylocarpofacial syndrome

Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome

Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome

Cerebro-costo-mandibular syndrome

Cervical hypertrichosis and peripheral neuropathy syndrome

CHARGE syndrome

Cholestasis with pigmentary retinopathy and cleft palate syndrome

Chondrodysplasia with disorder of sex development syndrome

Choroideremia with deafness and obesity syndrome

Christianson syndrome

Chromosome Xp22.3 microdeletion syndrome

Chromosome Xq27.3q28 duplication syndrome

CK syndrome

Cleft palate with stapes fixation and oligodontia syndrome

Cleft palate, large ears, small head syndrome

Coffin-Siris syndrome1

Cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, skeletal dysplasia syndrome

Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome

Colobomatous microphthalmia, rhizomelic dysplasia syndrome

Conductive deafness, ptosis, skeletal anomalies syndrome

Congenital cataract with deafness and hypogonadism syndrome

Congenital cataract with hypertrichosis and intellectual disability syndrome

Congenital deafness with labyrinthine aplasia, microtia and microdontia

Congenital generalized hypercontractile muscle stiffness syndrome

Congenital intrauterine infection-like syndrome

Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome

Cooper Jabs syndrome

Coxoauricular syndrome

Craniofacial ulnar renal syndrome

Craniolenticulosutural dysplasia

Craniosynostosis and dental anomalies syndrome

Craniosynostosis, anal anomaly, porokeratosis syndrome

Crome syndrome

Cross syndrome

Deaf blind hypopigmentation syndrome Yemenite type

Deafness, vitiligo, achalasia syndrome

Developmental malformation, deafness, dystonia syndrome

Diaphanospondylodysostosis

Diaphragmatic defect, limb deficiency, skull defect syndrome

Didymosis aplasticosebacea

Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome

Disorder of sex development with intellectual disability syndrome

Distal 22q11.2 microdeletion syndrome

Distal 22q11.2 microduplication syndrome

Distal monosomy 10q syndrome

Distal monosomy 13q syndrome

Distal monosomy 14q syndrome

Distal monosomy 15q

Distal monosomy 1q syndrome

Distal monosomy 7q36 syndrome

Distal trisomy 16q

Distal trisomy 1p36

Distal trisomy 22q syndrome

Distal trisomy 5q syndrome

Dobrow syndrome

DOORS syndrome

Double uterus, hemivagina, renal agenesis syndrome

Double Y syndrome

Duane anomaly, myopathy, scoliosis syndrome

Duhamel's syndrome

Dyschondrosteosis and nephritis syndrome

Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome

Encephalopathy, intracerebral calcification, retinal degeneration syndrome

Epibulbar lipodermoid, preauricular appendage, polythelia syndrome

Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome

Fallot complex with intellectual disability and growth delay syndrome

Familial caudal dysgenesis

FLOTCH syndrome

Focal dermal hypoplasia

Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome

Galloway Mowat syndrome

GEMSS syndrome

Genitopalatocardiac syndrome

Genitopatellar syndrome

Gillespie syndrome

Goldenhar syndrome

Gomez Lopez Hernandez syndrome

Haim Munk syndrome

Hair defect with photosensitivity and intellectual disability syndrome

Hanhart's syndrome

Hirschsprung disease with nail hypoplasia and dysmorphism

HIVEP2-related intellectual disability

Holzgreve syndrome

Hydrocephalus with obesity and hypogonadism syndrome

Hydrocephalus, blue sclera, nephropathy syndrome

Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome

Hydrocephalus, tall stature, joint laxity syndrome

Hypertelorism, preauricular sinus, punctual pits, deafness syndrome

Hypogonadism with anosmia1

Hypoplasia of pancreas, intestinal atresia, hypoplasia of gallbladder syndrome

Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome

Imperforate oropharynx, costovertebral anomalies syndrome

Intellectual disability Birk-Barel type

Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome

Intellectual disability, myopathy, short stature, endocrine defect syndrome

Johanson-Blizzard syndrome

Johnson neuroectodermal syndrome

Joint contracture, webbed neck, micrognathia, hypoplastic nipple syndrome

Keratosis follicularis, dwarfism, cerebral atrophy syndrome

Kousseff syndrome

Kundrat's syndrome

Laurence-Moon syndrome

Lethal hydranencephaly, diaphragmatic hernia syndrome

LIG4 syndrome

Lipodystrophy, intellectual disability, deafness syndrome

Lowe Kohn Cohen syndrome

Lowry MacLean syndrome

Lymphedema hypoparathyroidism syndrome

Macrostomia, preauricular tag, external ophthalmoplegia syndrome

MACS syndrome

Male emopamil-binding protein disorder with neurological defect

Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome

Manitoba oculotrichoanal syndrome

MARCH syndrome

Marfanoid syndrome De Silva type

Matthew Wood syndrome

McCune Albright syndrome

McKusick Kaufman syndrome

Meacham syndrome

Megacystis, microcolon, hypoperistalsis syndrome

Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome

Megalocornea with intellectual disability syndrome

MEHMO syndrome

Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome

Microcephalic cortical malformations, short stature due to RTTN deficiency

Microcephalic primordial dwarfism Toriello type

Microcephalus cardiomyopathy syndrome

Microcephalus with cardiac defect and lung malsegmentation syndrome

Microcephalus, brain defect, spasticity, hypernatremia syndrome

Microcephalus, glomerulonephritis, marfanoid habitus syndrome

Microcephalus, lymphedema, chorioretinopathy syndrome

Microcephaly, polymicrogyria, corpus callosum agenesis syndrome

Microcephaly, seizure, intellectual disability, heart disease syndrome

Microcephaly, thin corpus callosum, intellectual disability syndrome

Microduplication Xp11.22p11.23 syndrome

Microphthalmia, microtia, fetal akinesia syndrome

Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome

MIRAGE syndrome

Monosomy 13q14 syndrome

Monosomy 13q34 syndrome

Monosomy 22 syndrome

Moore-Federman syndrome

Mosaic trisomy 1 syndrome

Mosaic trisomy 12 syndrome

Mosaic trisomy 14 syndrome

Mosaic trisomy 15 syndrome

Mosaic trisomy 16 syndrome

Mosaic trisomy 17 syndrome

Mosaic trisomy 2 syndrome

Mosaic trisomy 20 syndrome

Mosaic trisomy 22 syndrome

Mosaic trisomy 3 syndrome

Mosaic trisomy 5 syndrome

Mosaic trisomy 8 syndrome

Mulibrey nanism syndrome1

Multiple malformation syndrome due to non-infectious environmental agents2

Multiple malformation syndrome with early overgrowth24

Multiple malformation syndrome with facial defects as major feature342

Multiple malformation syndrome with limb defect as major feature138

Multiple malformation syndrome with senile-like appearance3

Multiple malformation syndrome with unusual brain and/or neuromuscular findings18

Multiple malformation syndrome, moderate short stature, facial9

Multiple malformation syndrome, small stature, without skeletal dysplasia7

Muscle eye brain disease with bilateral multicystic leukodystrophy

Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome

Nasopalpebral lipoma coloboma syndrome

Native American myopathy

NEK9-related lethal skeletal dysplasia

Nephrosis, deafness, urinary tract, digital malformation syndrome

Neuroectodermal melanolysosomal disease

Non-distal monosomy 12q

NPHP3-related Meckel-like syndrome

Ochoa syndrome

Oculoauricular syndrome Schorderet type

Oculofaciocardiodental syndrome

Oculopalatocerebral syndrome

Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome

Osteochondrodysplasia syndrome21

Pachygyria, intellectual disability, epilepsy syndrome

PAGOD syndrome

Pancreatic agenesis, holoprosencephaly syndrome

Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome

Paternal 20q13.2q13.3 microdeletion syndrome

Pectus excavatum, macrocephaly, dysplastic nails syndrome

PELVIS syndrome

Pentalogy of Cantrell

Pericardial and diaphragmatic defect syndrome

Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome

Pili torti with developmental delay and neurological abnormality syndrome

Poikiloderma, alopecia, retrognathism, cleft palate syndrome

Polysyndactyly and cardiac malformation syndrome

Pontine tegmental cap dysplasia

Porencephaly, cerebellar hypoplasia, internal malformations syndrome

Porencephaly, microcephaly, bilateral congenital cataract syndrome

Port-wine nevi, mega cisterna magna, hydrocephalus syndrome

Postaxial polydactyly, anterior pituitary anomalies, facial dysmorphism syndrome

Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome

Potocki-Shaffer syndrome

Prader-Willi syndrome

Prune belly syndrome with pulmonic stenosis, mental retardation and deafness

Pseudoleprechaunism syndrome Patterson type

RAB18 deficiency2

Renal caliceal diverticuli and deafness syndrome

Renal hepatic pancreatic dysplasia

RHYNS syndrome

Richieri Costa-da Silva syndrome

Ring chromosome 1 syndrome

Ring chromosome 10 syndrome

Ring chromosome 11 syndrome

Ring chromosome 12 syndrome

Ring chromosome 13 syndrome

Ring chromosome 14 syndrome

Ring chromosome 15 syndrome

Ring chromosome 16 syndrome

Ring chromosome 17 syndrome

Ring chromosome 18 syndrome

Ring chromosome 19 syndrome

Ring chromosome 2 syndrome

Ring chromosome 20 syndrome

Ring chromosome 21 syndrome

Ring chromosome 22 syndrome

Ring chromosome 3 syndrome

Ring chromosome 4 syndrome

Ring chromosome 5 syndrome

Ring chromosome 6 syndrome

Ring chromosome 7 syndrome

Ring chromosome 8 syndrome

Ring chromosome 9 syndrome

Ring chromosome Y syndrome

Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome

Scalp defect postaxial polydactyly syndrome

SCALP syndrome

Schwartz-Jampel syndrome

Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome

Seemanova Lesny syndrome

Septo-optic dysplasia sequence

SERKAL syndrome

Severe feeding difficulties, failure to thrive, microcephaly due to ASXL3 deficiency syndrome

Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome

Severe myopia, generalized joint laxity, short stature syndrome

Severe oculo-renal-cerebellar syndrome

Short stature, advanced bone age, early-onset osteoarthritis syndrome

Short stature, wormian bones, dextrocardia syndrome

Siegler Brewer Carey syndrome

Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome

Smith-Magenis syndrome

Spigelian hernia with cryptorchidism syndrome

Spina bifida and hypospadias syndrome

Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome

Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome

Steroid dehydrogenase deficiency and dental anomaly syndrome

Stickler syndrome3

Stromme syndrome

Subaortic stenosis and short stature syndrome

Syndromic X-linked intellectual disability due to JARID1C mutation

TARP syndrome

Taurodontia with absent teeth and sparse hair syndrome

Tetraamelia with multiple malformation syndrome

Tetrasomy 12p syndrome

Tetrasomy 21

Tetrasomy 5p syndrome

Thoraco-abdominal enteric duplication

Thymic, renal, anal, lung dysplasia syndrome

Timothy syndrome3

Torticollis, keloids, cryptorchidism, renal dysplasia syndrome

Trigonocephaly, short stature, developmental delay syndrome

Trisomy 1q syndrome

Uveal coloboma with cleft lip and palate and intellectual disability syndrome

VACTEL syndrome

VACTERL syndrome with hydrocephalus

Van den Bosch syndrome

VATER association

Vertebral abnormalities, anal atresia, cardiac abnormalities, tracheo-esophageal fistula, renal anomalies, limb defects syndrome

Vici syndrome

Waardenburg's syndrome5

X-linked cerebral, cerebellar, coloboma syndrome

X-linked cleft palate and ankyloglossia

X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome

X-linked intellectual disability Cabezas type

X-linked intellectual disability Stocco Dos Santos type

X-linked intellectual disability, craniofacioskeletal syndrome

X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome

XK aprosencephaly syndrome

Xq12-q13.3 duplication syndrome

XY type gonadal dysgenesis with associated anomalies syndrome