FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server  |   User: [n/a]

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 Reference Sets
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 GB English: Preferred (foundation metadata concept)
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 GB English: Preferred (foundation metadata concept)

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

Page 1 of 2 End


This concept is not in any reference sets

Back to Start