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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. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

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

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 Is a Multiple system malformation syndrome true Inferred relationship Existential restriction modifier
Multiple malformation syndrome with facial defects as major feature Occurrence Congenital false Inferred relationship Existential restriction modifier
Multiple malformation syndrome with facial defects as major feature Associated morphology Congenital malformation false Inferred relationship Existential restriction modifier
Multiple malformation syndrome with facial defects as major feature Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Multiple malformation syndrome with facial defects as major feature Is a Congenital anomaly of face true Inferred relationship Existential restriction modifier
Multiple malformation syndrome with facial defects as major feature Associated morphology Developmental anomaly false Inferred relationship Existential restriction modifier 1
Multiple malformation syndrome with facial defects as major feature Finding site Face structure true Inferred relationship Existential restriction modifier 1
Multiple malformation syndrome with facial defects as major feature Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier 1
Multiple malformation syndrome with facial defects as major feature Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 1
Inbound Relationships Type Active Source Characteristic Refinability Group
First arch syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Multiple malformation syndrome with facial-limb defects as major feature Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Melnick-Fraser syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Marshall syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Fraser syndrome Is a False Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Robin sequence Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Waardenburg syndrome Is a False Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Otocephalic syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Grob's syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Asymmetric crying face association Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Cranio-orbito-ocular dysraphia syndrome Is a False Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Cleft lip sequence Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Van der Woude syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Wildervanck syndrome Is a False Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Blepharophimosis syndrome Is a False Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Treacher Collins syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Frontonasal dysplasia sequence Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Congenital nonprogressive myopathy with Moebius and Robin sequences Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Diaphragmatic hernia, abnormal face and distal limb anomalies Is a False Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Mandibulofacial dysostosis with microcephaly Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
McDonough syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Delayed membranous cranial ossification Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Craniofrontonasal dysplasia Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Acromelic frontonasal dysplasia Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Deafness craniofacial syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Crane Heise syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Maxillonasal dysplasia syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Cataract with aberrant oral frenula and growth delay syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Frontofacionasal dysplasia syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Short stature with craniofacial anomalies and genital hypoplasia syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Holoprosencephaly and postaxial polydactyly syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Hypospadias and intellectual disability syndrome Goldblatt type Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Ichthyosis cheek eyebrow syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Macrocephaly with spastic paraplegia and dysmorphism syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Microcephaly with deafness and intellectual disability syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Delayed speech and facial asymmetry with strabismus and ear lobe skin crease syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Shprintzen Goldberg omphalocele syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Potter sequence cleft lip and palate cardiopathy syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Trisomy 17p Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Syndromic hypoplasia of orbital border Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Koolen De Vries syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Craniofacial digital and genital anomalies syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Wolf Hirschhorn syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Camptodactyly with joint contracture and facial skeletal defect syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Congenital heart defect with round face and developmental delay syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Cranio-cerebello-cardiac dysplasia syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Ablepharon macrostomia syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
X-linked intellectual disability Seemanova type Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Syndromic X-linked intellectual disability type 11 Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
X-linked intellectual disability Siderius type Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
X-linked intellectual disability Stoll type Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Pallister W syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
14q11.2 microdeletion syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Shprintzen Goldberg craniosynostosis syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
X-linked intellectual disability and epilepsy with progressive joint contracture and facial dysmorphism syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Short stature Brussels type Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Branchioskeletogenital syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Microcephalus cleft palate syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Malignant hyperthermia with arthrogryposis and torticollis syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Cleft palate with short stature and vertebral anomaly syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Gingival fibromatosis with facial dysmorphism syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
X-linked intellectual disability with plagiocephaly syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
8q22.1 microdeletion syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Wilson Turner syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Van den Ende-Gupta syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Chromosome Xq28 trisomy Is a False Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Craniofacial dysmorphism with coloboma of eye and corpus callosum agenesis syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Anophthalmia plus syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Arrhinia with choanal atresia and microphthalmia syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Arthrogryposis multiplex congenita and whistling face syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Cerebro-facio-thoracic dysplasia Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Contracture with ectodermal dysplasia and orofacial cleft syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Craniofacial dyssynostosis syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Craniosynostosis and intracranial calcification syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionizing radiation syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Cerebrooculonasal syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Ehlers-Danlos syndrome musculocontractural type Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Deafness with skeletal dysplasia and lip granuloma syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Frank-Ter Haar syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Chudley Lowry Hoar syndrome Is a False Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Cerebro-oculo-dento-auriculo-skeletal syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Fine Lubinsky syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Hall Riggs syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Short stature with webbed neck and congenital heart disease syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Short tarsus with absence of lower eyelashes syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Deafness and intellectual disability Martin Probst type syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Goldberg Shprintzen megacolon syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Hydrocephalus, cardiac malformation, dense bone syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Bifid nose, anorectal anomaly, renal anomaly syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Intellectual disability, epilepsy, bulbous nose syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Holmes Gang syndrome Is a False Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier

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