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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

561 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 Some
Multiple malformation syndrome with facial defects as major feature Occurrence Congenital false Inferred relationship Some
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 Occurrence Congenital true Inferred relationship Some 1
Multiple malformation syndrome with facial defects as major feature Is a Congenital anomaly of face (disorder) true Inferred relationship Some
Multiple malformation syndrome with facial defects as major feature Associated morphology Developmental anomaly 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 Associated morphology Morphologically abnormal structure (morphologic abnormality) 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
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 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 undermodeling, spondylar dysplasia syndrome (disorder) 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 (disorder) 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 (disorder) Is a 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) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
X-linked intellectual disability with marfanoid habitus (disorder) 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
Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome (disorder) 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
Intellectual disability, cardiac anomalies, short stature, joint laxity syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Gabriele-de Vries syndrome Is a 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) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
STAG1-related intellectual disability, facial dysmorphism, gastrooesophageal reflux syndrome Is a 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 Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Mucopolysaccharidosis-like plus disease Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Witteveen Kolk syndrome Is a 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) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Basel Vanagaite Smirin Yosef syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Hallermann Streiff like syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Sanjad Sakati syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder) Is a 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) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Intellectual disability, expressive aphasia, facial dysmorphism syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Fryns Smeets Thiry syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Congenital hydrocephalus, low insertion of umbilicus syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
SATB2-associated syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome (disorder) Is a 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) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
PHIP-related behavioural problems, intellectual disability, obesity, dysmorphic features syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Mandibulofacial dysostosis with alopecia Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Diaphragmatic hernia, short bowel, asplenia syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Intellectual disability, autism, speech apraxia, craniofacial dysmorphism syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
QRICH1-related intellectual disability, chondrodysplasia syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Keppen Lubinsky syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Pierpont syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
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 Some
Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
1p35.2 microdeletion syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Xq25 microduplication syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
9q21.13 microdeletion syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Lethal brain and heart developmental defects syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
11q22.2q22.3 microdeletion syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
8q24.3 microdeletion syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Night blindness, skeletal anomalies, dysmorphism syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
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 Some
PYCR2-related microcephaly, progressive leucoencephalopathy Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Cerebellar-facial-dental syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Lamb Shaffer syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Oculocerebrodental syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Autosomal dominant intellectual disability, craniofacial anomalies, cardiac defects syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Baraitser Winter cerebrofrontofacial syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Menke Hennekam syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
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 Some
Megalencephaly, severe kyphoscoliosis, overgrowth syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Epiphyseal, vertebral, ear dysplasia, nose plus associated findings syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Marden Walker syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Craniosynostosis, microretrognathia, severe intellectual disability syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Microcephaly, facial dysmorphism, ocular anomalies, multiple congenital anomalies syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Triopia Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
de Barsey syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Clark Baraitser syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Congenital pontocerebellar hypoplasia type 11 (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Congenital pontocerebellar hypoplasia type 12 Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
SMARCA2-related blepharophimosis, intellectual disability syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Marfanoid habitus, facial dysmorphism, skeletal abnormality, heart defect syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, gingival overgrowth syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
CCNK-related neurodevelopmental disorder, severe intellectual disability, facial dysmorphism syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Developmental delay, overweight, facial dysmorphism, behavioral abnormalities syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some

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