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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
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
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
Intellectual disability, cardiac anomalies, short stature, joint laxity syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Gabriele-de Vries syndrome est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Cleft lip and palate, craniofacial dysmorphism, congenital heart defect, hearing loss syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
STAG1-related intellectual disability, facial dysmorphism, gastrooesophageal reflux syndrome est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Mucopolysaccharidosis-like plus disease est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Witteveen Kolk syndrome est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
WW domain containing adaptor with coiled-coil-related facial dysmorphism, developmental delay, behavioral abnormalities syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Basel Vanagaite Smirin Yosef syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Hallermann Streiff like syndrome est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Sanjad Sakati syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Bilateral hip and radial head dislocations, short stature, scoliosis, carpal coalition, pes cavus, facial dysmorphism syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Intellectual disability, expressive aphasia, facial dysmorphism syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Fryns Smeets Thiry syndrome est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Congenital hydrocephalus, low insertion of umbilicus syndrome est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
SATB2-associated syndrome est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
PHIP-related behavioural problems, intellectual disability, obesity, dysmorphic features syndrome est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Mandibulofacial dysostosis with alopecia est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Diaphragmatic hernia, short bowel, asplenia syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy syndrome est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Intellectual disability, autism, speech apraxia, craniofacial dysmorphism syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
QRICH1-related intellectual disability, chondrodysplasia syndrome est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Keppen Lubinsky syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Pierpont syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
1p35.2 microdeletion syndrome est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Xq25 microduplication syndrome est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
9q21.13 microdeletion syndrome est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Lethal brain and heart developmental defects syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
11q22.2q22.3 microdeletion syndrome est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
8q24.3 microdeletion syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
First arch syndrome est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Multiple malformation syndrome with facial-limb defects as major feature est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Melnick-Fraser syndrome est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
syndrome de Marshall (trouble) est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Fraser syndrome est un(e) (attribut) False Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Robin sequence (disorder) est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
syndrome de Waardenburg (trouble) est un(e) (attribut) False Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Otocephalic syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Grob's syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Asymmetric crying face association (disorder) est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Cranio-orbito-ocular dysraphia syndrome (disorder) est un(e) (attribut) False Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Cleft lip sequence est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Van der Woude syndrome est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Wildervanck syndrome est un(e) (attribut) False Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Blepharophimosis syndrome est un(e) (attribut) False Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Treacher Collins syndrome est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Frontonasal dysplasia sequence est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Congenital nonprogressive myopathy with Moebius and Robin sequences (disorder) est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) est un(e) (attribut) False Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Char syndrome est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Mandibulofacial dysostosis with microcephaly est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
McDonough syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Delayed membranous cranial ossification (disorder) est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
dysplasie cranio-fronto-nasale est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Acromelic frontonasal dysplasia (disorder) est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Deafness craniofacial syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Crane Heise syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Maxillonasal dysplasia syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Cataract with aberrant oral frenula and growth delay syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Frontofacionasal dysplasia syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Short stature with craniofacial anomalies and genital hypoplasia syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Holoprosencephaly and postaxial polydactyly syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
syndrome d'hypospadias-déficience intellectuelle type Goldblatt est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Ichthyosis cheek eyebrow syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Microcephaly with deafness and intellectual disability syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Delayed speech and facial asymmetry with strabismus and ear lobe skin crease syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Shprintzen Goldberg omphalocele syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Potter sequence cleft lip and palate cardiopathy syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Trisomy 17p (disorder) est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Syndromic hypoplasia of orbital border (disorder) est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Koolen De Vries syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Harrod syndrome est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Wolf Hirschhorn syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Camptodactyly with joint contracture and facial skeletal defect syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Sonoda syndrome est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
3C syndrome est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Ablepharon macrostomia syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
X-linked intellectual disability Seemanova type (disorder) est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Syndromic X-linked intellectual disability type 11 (disorder) est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
X-linked intellectual disability Siderius type (disorder) est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
X-linked intellectual disability Stoll type (disorder) est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Pallister W syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
14q11.2 microdeletion syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Shprintzen Goldberg craniosynostosis syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
X-linked intellectual disability and epilepsy with progressive joint contracture and facial dysmorphism syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some

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