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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
108175012 Multiple malformation syndrome with facial defects as major feature, NOS en Synonym Inactive Only initial character 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
Brain malformations, musculoskeletal abnormalities, facial dysmorphism, intellectual disability syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Tall stature, intellectual disability, renal anomalies syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Overgrowth, metaphyseal undermodeling, spondylar dysplasia syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Fried syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
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 Existential restriction modifier
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Kosaki overgrowth syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
X-linked intellectual disability with marfanoid habitus Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Intellectual disability, seizures, abnormal gait, facial dysmorphism syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Metopic ridging, ptosis, facial dysmorphism syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Chromodomain helicase dna-binding protein 3- 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 Existential restriction modifier
Intellectual disability, cardiac anomalies, short stature, joint laxity syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Gabriele-de Vries syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Cleft lip and palate, craniofacial dysmorphism, congenital heart defect, hearing loss syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Stromal antigen 1-related intellectual disability, facial dysmorphism, gastroesophageal reflux syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Mucopolysaccharidosis-like plus disease Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Witteveen Kolk syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
WW domain containing adaptor with coiled-coil-related facial dysmorphism, developmental delay, behavioral abnormalities syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Macrocephaly, intellectual disability, left ventricular non compaction syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Basel Vanagaite Smirin Yosef syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Hallermann Streiff like syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Sanjad Sakati syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Bilateral hip and radial head dislocations, short stature, scoliosis, carpal coalition, pes cavus, facial dysmorphism syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Intellectual disability, expressive aphasia, facial dysmorphism syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Fryns Smeets Thiry syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Congenital hydrocephalus, low insertion of umbilicus syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Special AT-rich sequence-binding protein 2-associated syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Pleckstrin homology domain interacting protein-related behavioral problems, intellectual disability, obesity, dysmorphic features syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Mandibulofacial dysostosis with alopecia Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Diaphragmatic hernia, short bowel, asplenia syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Intellectual disability, autism, speech apraxia, craniofacial dysmorphism syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Glutamine rich 1-related intellectual disability, chondrodysplasia syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Keppen Lubinsky syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Pierpont syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
1p35.2 microdeletion syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Xq25 microduplication syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
9q21.13 microdeletion syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Lethal brain and heart developmental defects syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
11q22.2q22.3 microdeletion syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
8q24.3 microdeletion syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Night blindness, skeletal anomalies, dysmorphism syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
X-linked intellectual disability, global development delay, facial dysmorphism, sacral caudal remnant syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Pyrroline-5-carboxylate reductase 2 related microcephaly, progressive leukoencephalopathy Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Cerebellar-facial-dental syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Lamb Shaffer syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Intellectual disability, macrocephaly, hypotonia, behavioral abnormalities syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Oculocerebrodental syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Autosomal dominant intellectual disability, craniofacial anomalies, cardiac defects syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Baraitser Winter cerebrofrontofacial syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Menke Hennekam syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Progressive essential tremor, speech impairment, facial dysmorphism, intellectual disability, abnormal behavior syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Megalencephaly, severe kyphoscoliosis, overgrowth syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Epiphyseal, vertebral, ear dysplasia, nose plus associated findings syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier
Carey Fineman Ziter syndrome Is a False Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier

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