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

Descriptions:

Id Description Lang Type Status Case? Module
39212019 Multiple malformation syndrome with facial-limb defects as major feature en Synonym Active Entire term case insensitive SNOMED CT core module
752870014 Multiple malformation syndrome with facial-limb defects as major feature (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

159 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
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
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
Multiple malformation syndrome with facial-limb defects as major feature Associated morphology Developmental anomaly false Inferred relationship Existential restriction modifier
Multiple malformation syndrome with facial-limb defects as major feature Finding site Musculoskeletal structure of limb false Inferred relationship Existential restriction modifier
Multiple malformation syndrome with facial-limb defects as major feature Occurrence Congenital false Inferred relationship Existential restriction modifier
Multiple malformation syndrome with facial-limb defects as major feature Finding site Limb structure false Inferred relationship Existential restriction modifier 1
Multiple malformation syndrome with facial-limb defects as major feature Associated morphology Congenital anomaly false Inferred relationship Existential restriction modifier 2
Multiple malformation syndrome with facial-limb defects as major feature Associated morphology Congenital malformation false Inferred relationship Existential restriction modifier 1
Multiple malformation syndrome with facial-limb defects as major feature Associated morphology Congenital malformation false Inferred relationship Existential restriction modifier 1
Multiple malformation syndrome with facial-limb defects as major feature Finding site Limb structure true Inferred relationship Existential restriction modifier 1
Multiple malformation syndrome with facial-limb defects as major feature Occurrence Congenital true Inferred relationship Existential restriction modifier 2
Multiple malformation syndrome with facial-limb defects as major feature Associated morphology Developmental anomaly false Inferred relationship Existential restriction modifier 2
Multiple malformation syndrome with facial-limb defects as major feature Finding site Face structure true Inferred relationship Existential restriction modifier 2
Multiple malformation syndrome with facial-limb defects as major feature Occurrence Congenital false Inferred relationship Existential restriction modifier 3
Multiple malformation syndrome with facial-limb defects as major feature Associated morphology Developmental anomaly false Inferred relationship Existential restriction modifier 3
Multiple malformation syndrome with facial-limb defects as major feature Finding site Limb structure false Inferred relationship Existential restriction modifier 2
Multiple malformation syndrome with facial-limb defects as major feature Finding site Face structure false Inferred relationship Existential restriction modifier 3
Multiple malformation syndrome with facial-limb defects as major feature Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 1
Multiple malformation syndrome with facial-limb defects as major feature Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier 1
Multiple malformation syndrome with facial-limb defects as major feature Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier 2
Multiple malformation syndrome with facial-limb defects as major feature Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 2
Multiple malformation syndrome with facial-limb defects as major feature Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Coffin-Lowry syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier
Trichorhinophalangeal syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier
Townes syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier
Ruvalcaba syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier
Nager syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier
Oculodentodigital syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier
Ectrodactyly-ectodermal dysplasia-clefting syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier
Mietens syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier
Oto-palato-digital syndrome, type II Is a False Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier
Roberts-SC phocomelia syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier
FG syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier
Oral-facial-digital syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier
Hay-Wells syndrome of ectodermal dysplasia Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier
Larsen syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier
Miller syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier
Stickler syndrome Is a False Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier
Shprintzen syndrome Is a False Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier
Ophthalmomandibulomelic dysplasia Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier
Autosomal recessive distal osteolysis syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier
Acrocallosal syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier
Seaver Cassidy syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier
Pseudoaminopterin syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier
Steinfeld syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier
Deafness with epiphyseal dysplasia and short stature syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier
Multicentric osteolysis nodulosis arthropathy spectrum Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier
Trisomy 10p Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier
Hydrocephalus with cleft palate and joint contracture syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier
Spondyloepiphyseal dysplasia and brachydactyly with speech disorder syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier
X-linked intellectual disability Stevenson type Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier
Carpenter Waziri syndrome Is a False Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier
X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier
Smith Fineman Myers syndrome Is a False Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier
Pyknoachondrogenesis Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier
Pterygium colli with intellectual disability and digital anomaly syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier
Pelviscapular dysplasia syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier
Microcephalus with albinism and digital anomaly syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier
Microcephalus with brachydactyly and kyphoscoliosis syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier
Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier
Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome Is a False Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier
Lethal faciocardiomelic dysplasia Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier
X-linked mandibulofacial dysostosis Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier
Ventricular extrasystoles with syncope, perodactyly and Robin sequence syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier
Renal dysplasia with limb defect syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier
Ulna fibula ray defect and brachydactyly syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier
Tel Hashomer camptodactyly syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier
Trigonocephaly with bifid nose and acral anomaly syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier
Trigonocephaly with broad thumb syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier
Acrofrontofacionasal dysostosis Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier
Acrootoocular syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier
Acrorenal mandibular syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier
Acrocephalopolydactyly Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier
Acrocraniofacial dysostosis Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier
Acromegaloid facial appearance syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier
Camptodactyly syndrome Guadalajara type 1 Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier
Acrofacial dysostosis Catania type Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier
Acrofacial dysostosis Kennedy Teebi type Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier
Acrofacial dysostosis Palagonia type Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier
Acrofacial dysostosis Rodriguez type Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier
Adducted thumbs and arthrogryposis syndrome Christian type Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier
Arachnodactyly with abnormal ossification and intellectual disability syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier
Arachnodactyly and intellectual disability with facial dysmorphism syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier
Bohring Opitz syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier
Brachymorphism with onychodysplasia and dysphalangism syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier
Brachytelephalangy, facial dysmorphism, Kallmann syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier
Craniofacial conodysplasia syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier
Craniosynostosis with facial dysmorphism and brachydactyly syndrome Is a False Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier
Craniosynostosis Boston type Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier
Filippi syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier
Alopecia, contracture, dwarfism, intellectual disability syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier
Capillary malformation of lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs and overgrowth syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier
Cloverleaf skull with multiple congenital anomalies syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier
Oromandibular-limb hypogenesis spectrum Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier
Brain malformation, congenital heart disease, postaxial polydactyly syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier
Juberg Hayward syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier
Radioulnar synostosis with developmental delay and hypotonia syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier
Schilbach Rott syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier
Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier
Intellectual disability, balding, patella luxation, acromicria syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier
Oto-palato-digital syndrome, type I Is a False Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier
Distal limb deficiency with micrognathia syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier
Endocrine-cerebro-osteodysplasia syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier
Microlissencephaly micromelia syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier
Syndactyly, telecanthus, anogenital and renal malformation syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier
Patterson Stevenson Fontaine syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier
Keutel syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier
Crisponi syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier
Craniomicromelic syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier
Autosomal recessive faciodigitogenital syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier
Neurofaciodigitorenal syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier
Hemifacial microsomia with radial defect syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier
Splenogonadal fusion, limb defect, micrognathia syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier
Cortical blindness, intellectual disability, polydactyly syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier
Ichthyosis, oral and digital anomalies syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier
Epilepsy telangiectasia syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier
Spinocerebellar ataxia dysmorphism syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier
Telecanthus, hypertelorism, strabismus, pes cavus syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier

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