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23359005: Multiple malformation syndrome with facial-limb 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
39212019 Multiple malformation syndrome with facial-limb defects as major feature en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
752870014 Multiple malformation syndrome with facial-limb defects as major feature (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
39212019 Multiple malformation syndrome with facial-limb defects as major feature en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
39212019 Multiple malformation syndrome with facial-limb defects as major feature en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
752870014 Multiple malformation syndrome with facial-limb defects as major feature (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
752870014 Multiple malformation syndrome with facial-limb defects as major feature (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

166 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Multiple malformation syndrome with facial-limb defects as major feature Is a Congenital anomaly of limb true Inferred relationship Existential restriction modifier (core metadata concept)
Multiple malformation syndrome with facial-limb defects as major feature Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Existential restriction modifier (core metadata concept)
Multiple malformation syndrome with facial-limb defects as major feature Is a Multiple malformation syndrome with limb defect as major feature true Inferred relationship Existential restriction modifier (core metadata concept)
Multiple malformation syndrome with facial-limb defects as major feature Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept)
Multiple malformation syndrome with facial-limb defects as major feature Finding site Musculoskeletal structure of limb (body structure) false Inferred relationship Existential restriction modifier (core metadata concept)
Multiple malformation syndrome with facial-limb defects as major feature Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
Multiple malformation syndrome with facial-limb defects as major feature Finding site Limb structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Multiple malformation syndrome with facial-limb defects as major feature Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 2
Multiple malformation syndrome with facial-limb defects as major feature Associated morphology Congenital malformation false Inferred relationship Existential restriction modifier (core metadata concept) 1
Multiple malformation syndrome with facial-limb defects as major feature Associated morphology Congenital malformation false Inferred relationship Existential restriction modifier (core metadata concept) 1
Multiple malformation syndrome with facial-limb defects as major feature Finding site Limb structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Multiple malformation syndrome with facial-limb defects as major feature Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Multiple malformation syndrome with facial-limb defects as major feature Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 2
Multiple malformation syndrome with facial-limb defects as major feature Finding site Face structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Multiple malformation syndrome with facial-limb defects as major feature Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 3
Multiple malformation syndrome with facial-limb defects as major feature Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 3
Multiple malformation syndrome with facial-limb defects as major feature Finding site Limb structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Multiple malformation syndrome with facial-limb defects as major feature Finding site Face structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 3
Multiple malformation syndrome with facial-limb defects as major feature Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Multiple malformation syndrome with facial-limb defects as major feature Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Multiple malformation syndrome with facial-limb defects as major feature Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Multiple malformation syndrome with facial-limb defects as major feature Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Multiple malformation syndrome with facial-limb defects as major feature Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder) Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Duplication of eyebrow and syndactyly syndrome (disorder) Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Lethal multiple pterygium syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Craniodigital syndrome and intellectual disability syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Intellectual disability, polydactyly, uncombable hair syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Intellectual disability-brachydactyly-Pierre Robin syndrome is a rare developmental defect during embryogenesis syndrome characterized by mild to moderate intellectual disability and psychomotor delay, Robin sequence (including severe micrognathia and soft palate cleft) and distinct dysmorphic facial features (e.g. synophrys, short palpebral fissures, hypertelorism, small, low-set, and posteriorly angulated ears, bulbous nose, long/flat philtrum, and bow-shaped upper lip). Skeletal anomalies, such as brachydactyly, clinodactyly, small hands and feet, and oral manifestations (e.g. bifid, short tongue, oligodontia) are also associated. Additional features reported include microcephaly, capillary hemangiomas on face and scalp, ventricular septal defect, corneal clouding, nystagmus and profound sensorineural deafness. Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Dislocation of hip and facial dysmorphism syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Keipert syndrome (disorder) Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Verloove Vanhorick-Brubakk syndrome is a multiple congenital anomalies/dysmorphic syndrome characterized by multiple skeletal malformations (short femora and humeri, bilateral absence of metatarsal and metacarpal bone in hands and feet, bilateral partial syndactyly of fingers and toes or oligopolysyndactyly, deformed lumbosacral spine), congenital heart disease (truncus arteriosus), lung and urogenital malformations (bilateral bilobar lungs, horseshoe kidney, cryptorchidism), and facial malformations (bilateral cleft lip and palate, micrognathia, small, low-set ears without external meatus). It is lethal in the neonatal period. There have been no further descriptions in the literature since 1981. Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome (disorder) Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Dyssegmental dysplasia Silverman Handmaker type (disorder) Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Epiphyseal dysplasia, hearing loss, dysmorphism syndrome (disorder) Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Otopalatodigital syndrome Is a False Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Infantile spasm and broad thumb syndrome (disorder) Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Choanal atresia with radial ray hypoplasia Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Robin sequence and oligodactyly syndrome (disorder) Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Jawad syndrome (disorder) Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Zechi Ceide syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Intellectual disability, facial dysmorphism, hand anomalies syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Short ulna, dysmorphism, hypotonia, intellectual disability syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Emery Nelson syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Arthrogryposis and ectodermal dysplasia syndrome (disorder) Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Femoral hypoplasia - unusual facies syndrome (disorder) Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Acrofrontofacionasal dysostosis type 2 Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Craniofacial deafness hand syndrome (disorder) Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Congenital omphalocele, diaphragmatic hernia, cardiovascular anomalies, radial ray defect syndrome (disorder) Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Camptodactyly syndrome, Guadalajara type 3 is a rare, genetic bone development disorder characterized by hand camptodactyly associated with facial dysmorphism (flat face, hypertelorism, telecanthus, symblepharon, simplified ears, retrognathia) and neck anomalies (short neck with striking pterygium, muscle sclerosis). Additional features include spinal defects (e.g. cervical and dorso-lumbar spina bifida occulta), congenital shortness of the sternocleidomastoid muscle, flexed wrists and thin hands and feet. Brain structural anomalies, multiple nevi, micropenis and mild intellectual disability are also observed. Imaging reveals increased bone trabeculae, cortical thickening of long bones and delayed bone age. Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome (disorder) Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome (disorder) Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome (disorder) Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Eye defects, arachnodactyly, cardiopathy syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies (disorder) Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
A rare multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay or regression, variable congenital heart defects (such as patent ductus arteriosus, atrial or ventricular septal defects, and double outlet right ventricle, among others), and dysmorphic features (including ptosis, epicanthal folds, abnormally set/dysplastic ears, low hairline or excess nuchal skin, wide-spaced/inverted nipples, umbilical hernia or diastasis recti, and digital anomalies). Additional variable manifestations are hyper- or hypotonia, seizures, hearing loss, cortical blindness, and optic atrophy. Brain imaging may show cerebral and cerebellar atrophy and hydrocephalus. Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
20q11.2 microdeletion syndrome (disorder) Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant myopia, midfacial retrusion, sensorineural hearing loss, rhizomelic dysplasia syndrome (disorder) Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome (disorder) Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
PDE4D haploinsufficiency syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome (disorder) Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
16p12.1p12.3 triplication syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Myosin binding protein C1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome (disorder) Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
4q25 proximal deletion syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Congenital contracture of limbs and face, hypotonia, developmental delay syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Robinow syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Multiple epiphyseal dysplasia Lowry type Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Spondylometaphyseal dysplasia, corneal dystrophy syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
KLHL7-related Bohring Opitz-like syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Alkuraya Kucinskas syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)

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