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65094009: Multiple malformation syndrome with facial defects as major feature (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
108174011 Multiple malformation syndrome with facial defects as major feature en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
108175012 Multiple malformation syndrome with facial defects as major feature, NOS en Synonym (core metadata concept) Inactive Only initial character case insensitive (core metadata concept) SNOMED CT core
804559017 Multiple malformation syndrome with facial defects as major feature (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

515 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Multiple malformation syndrome with facial defects as major feature morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 1
Multiple malformation syndrome with facial defects as major feature Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Multiple malformation syndrome with facial defects as major feature morphologie associée (attribut) Congenital malformation false Inferred relationship Some
Multiple malformation syndrome with facial defects as major feature est un(e) (attribut) syndrome de malformations multisystémiques true Inferred relationship Some
Multiple malformation syndrome with facial defects as major feature survenue (attribut) congénital true Inferred relationship Some 1
Multiple malformation syndrome with facial defects as major feature est un(e) (attribut) Congenital anomaly of face (disorder) true Inferred relationship Some
Multiple malformation syndrome with facial defects as major feature morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 1
Multiple malformation syndrome with facial defects as major feature localisation d'une constatation (attribut) face true Inferred relationship Some 1
Multiple malformation syndrome with facial defects as major feature survenue (attribut) congénital false Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Autism spectrum disorder due to AUTS2 deficiency est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
15q overgrowth syndrome est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Facial dysmorphism, immunodeficiency, livedo, short stature syndrome est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Thakker Donnai syndrome est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
dysplasie spondylo-épimétaphysaire type Geneviève est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
XYLT1-CDG - xylosyltransferase 1 congenital disorder of glycosylation est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Mandibular hypoplasia, deafness, progeroid syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Roifman syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Severe intellectual disability, short stature, behavioural abnormalities, facial dysmorphism syndrome est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
9q31.1q31.3 microdeletion syndrome est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
13q12.3 microdeletion syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
14q24.1q24.3 microdeletion syndrome est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Mandibulofacial dysostosis, macroblepharon, macrostomia syndrome est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Severe intellectual disability, poor language, strabismus, grimacing face, long fingers syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Intellectual disability, craniofacial dysmorphism, cryptorchidism syndrome est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
syndrome d'hypogonadisme hypogonadotrope-microcéphalie sévère-surdité neurosensorielle-dysmorphie est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Intellectual disability, hypotonia, brachycephaly, pyloric stenosis, cryptorchidism syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Craniofacial dysplasia osteopenia syndrome est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Flat face, microstomia, ear anomaly syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Pitt Hopkins-like syndrome (disorder) est un(e) (attribut) False Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Multiple congenital anomalies, hypotonia, seizures syndrome type 2 est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Progeroid and marfanoid aspect, lipodystrophy syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Intellectual disability, severe speech delay, mild dysmorphism syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
syndrome de Temple est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Blepharophimosis, intellectual disability syndrome, Verloes type (disorder) est un(e) (attribut) False Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Syndromic multisystem autoimmune disease due to itchy E3 ubiquitin protein ligase deficiency (disorder) est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Lethal polymalformative syndrome Boissel type est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Marfanoid habitus, inguinal hernia, advanced bone age syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Severe intellectual disability, progressive spastic diplegia syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Intellectual disability, facial dysmorphism syndrome due to SET domain containing 5 haploinsufficiency (disorder) est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Facial dysmorphism, developmental delay, behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion (disorder) est un(e) (attribut) False Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Noonan syndrome-like disorder with juvenile myelomonocytic leukaemia est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Thin ribs, tubular bones, dysmorphism syndrome est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
RIDDLE syndrome est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Macrocephaly, intellectual disability, autism syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Stickler syndrome type 3 (disorder) est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Ankyloblepharon filiforme adnatum with cleft palate syndrome est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Reunion Island Larsen-like syndrome (disorder) est un(e) (attribut) False Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
X-linked intellectual disability due to GRIA3 mutations est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion (disorder) est un(e) (attribut) False Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Melnick-Needles syndrome est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Multiple congenital anomalies, hypotonia, seizures syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Aneurysm osteoarthritis syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Developmental delay, facial dysmorphism syndrome due to mediator complex subunit 13 like deficiency (disorder) est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
21q22.11q22.12 microdeletion syndrome est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Leprechaunism syndrome est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Hennekam syndrome est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
syndrome d'Ascher (trouble) est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Desbuquois syndrome est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Winchester syndrome est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Williams syndrome est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Fragile X syndrome est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Angelman syndrome est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Neu-Laxova syndrome est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Marshall-Smith syndrome est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Blepharophimosis, intellectual disability syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Myhre syndrome est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Barber-Say syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
macrocéphalie, malformation capillaire est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Antley-Bixler syndrome est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
14q32 deletion syndrome est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Crouzon syndrome est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Oculo-auriculo-vertebral spectrum est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Microcephalus co-occurrent with cervical spine fusion anomaly (disorder) est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
16p11.2p12.2 microdeletion syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Combined deficiency of sialidase AND beta galactosidase est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Four X syndrome est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Methyl-cytosine phosphate guanine binding protein-2 duplication syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
X-linked intellectual disability hypotonic face syndrome est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
2p15p16.1 microdeletion syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
N syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome (disorder) est un(e) (attribut) 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 (disorder) est un(e) (attribut) 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 (disorder) est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Brain malformations, musculoskeletal abnormalities, facial dysmorphism, intellectual disability syndrome est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Tall stature, intellectual disability, renal anomalies syndrome est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Overgrowth, metaphyseal undermodeling, spondylar dysplasia syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Fried syndrome (disorder) est un(e) (attribut) 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 est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Kosaki overgrowth syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
X-linked intellectual disability with marfanoid habitus (disorder) est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Intellectual disability, seizures, abnormal gait, facial dysmorphism syndrome est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Metopic ridging, ptosis, facial dysmorphism syndrome est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome (disorder) est un(e) (attribut) 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 est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some

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