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65094009: Multiple malformation syndrome with facial defects as major feature (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module
108174011 Multiple malformation syndrome with facial defects as major feature en Synonym Active Case insensitive SNOMED CT core
804559017 Multiple malformation syndrome with facial defects as major feature (disorder) en Fully specified name Active Case insensitive SNOMED CT core

540 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Multiple malformation syndrome with facial defects as major feature Associated morphology Morphologically abnormal structure true Inferred relationship Some 1
Multiple malformation syndrome with facial defects as major feature Pathological process Pathological developmental process true Inferred relationship Some 1
Multiple malformation syndrome with facial defects as major feature Associated morphology Congenital malformation false Inferred relationship Some
Multiple malformation syndrome with facial defects as major feature Is a Multiple system malformation syndrome true Inferred relationship Some
Multiple malformation syndrome with facial defects as major feature Occurrence Congenital true Inferred relationship Some 1
Multiple malformation syndrome with facial defects as major feature Is a Congenital anomaly of face true Inferred relationship Some
Multiple malformation syndrome with facial defects as major feature Associated morphology Developmental abnormality false Inferred relationship Some 1
Multiple malformation syndrome with facial defects as major feature Finding site Face structure true Inferred relationship Some 1
Multiple malformation syndrome with facial defects as major feature Occurrence Congenital false Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Autosomal recessive leukoencephalopathy, ischaemic stroke, retinitis pigmentosa syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Autism spectrum disorder due to AUTS2 deficiency Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
15q overgrowth syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Facial dysmorphism, immunodeficiency, livedo, short stature syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Thakker Donnai syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Spondyloepimetaphyseal dysplasia Genevieve type Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Xylosyltransferase 1 congenital disorder of glycosylation Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Mandibular hypoplasia, deafness, progeroid syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Roifman syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Severe intellectual disability, short stature, behavioural abnormalities, facial dysmorphism syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
9q31.1q31.3 microdeletion syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
13q12.3 microdeletion syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
14q24.1q24.3 microdeletion syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Mandibulofacial dysostosis, macroblepharon, macrostomia syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Severe intellectual disability, poor language, strabismus, grimacing face, long fingers syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Intellectual disability, craniofacial dysmorphism, cryptorchidism syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Intellectual disability, hypotonia, brachycephaly, pyloric stenosis, cryptorchidism syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Craniofacial dysplasia osteopenia syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Flat face, microstomia, ear anomaly syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Pitt Hopkins-like syndrome Is a False Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
AHDC1-related intellectual disability, obstructive sleep apnoea, mild dysmorphism syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Multiple congenital anomalies, hypotonia, seizures syndrome type 2 Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Progeroid and marfanoid aspect, lipodystrophy syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Intellectual disability, severe speech delay, mild dysmorphism syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Temple syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Blepharophimosis, intellectual disability syndrome, Verloes type Is a False Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Syndromic multisystem autoimmune disease due to ITCH deficiency Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Lethal polymalformative syndrome Boissel type Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Marfanoid habitus, inguinal hernia, advanced bone age syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Severe intellectual disability, progressive spastic diplegia syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Intellectual disability, facial dysmorphism syndrome due to SETD5 haploinsufficiency Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Facial dysmorphism, developmental delay, behavioural abnormalities syndrome due to 10p11.21p12.31 microdeletion Is a False Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Noonan syndrome-like disorder with juvenile myelomonocytic leukaemia Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Thin ribs, tubular bones, dysmorphism syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
RIDDLE syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Macrocephaly, intellectual disability, autism syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Stickler syndrome type 3 Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Ankyloblepharon filiforme adnatum with cleft palate syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Reunion Island Larsen-like syndrome Is a False Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
X-linked intellectual disability due to GRIA3 mutations Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion Is a False Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Melnick-Needles syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Multiple congenital anomalies, hypotonia, seizures syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Aneurysm osteoarthritis syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Developmental delay, facial dysmorphism syndrome due to MED13L deficiency Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
21q22.11q22.12 microdeletion syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Leprechaunism syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Hennekam syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Ascher's syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Desbuquois syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Winchester syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Williams syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Fragile X syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Angelman syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Neu-Laxova syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Marshall-Smith syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Blepharophimosis, intellectual disability syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Myhre syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Barber-Say syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Megalencephaly capillary malformation Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Antley-Bixler syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
14q32 deletion syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Crouzon syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Oculo-auriculo-vertebral spectrum Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Microcephaly with cervical spine fusion anomaly Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
16p11.2p12.2 microdeletion syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Combined deficiency of sialidase AND beta galactosidase Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Four X syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Methyl-cytosine phosphate guanine binding protein-2 duplication syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
X-linked intellectual disability hypotonic face syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
2p15p16.1 microdeletion syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
N syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Microcephaly, corpus callosum and cerebellar vermis hypoplasia, facial dysmorphism, intellectual disability syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Brain malformations, musculoskeletal abnormalities, facial dysmorphism, intellectual disability syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Tall stature, intellectual disability, renal anomalies syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Overgrowth, metaphyseal undermodelling, spondylar dysplasia syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Fried syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Kosaki overgrowth syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
X-linked intellectual disability with hypogammaglobulinaemia and progressive neurological deterioration syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
X-linked intellectual disability with marfanoid habitus Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Intellectual disability, seizures, abnormal gait, facial dysmorphism syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Metopic ridging, ptosis, facial dysmorphism syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
DYRK1A-related intellectual disability syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
CHD3-related developmental delay, speech delay, intellectual disability, abnormalities of vision, facial dysmorphism syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some

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Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

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