Congenital anomaly of limb
Multiple malformation syndrome with facial defects as major feature
Multiple malformation syndrome with limb defect as major feature
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Multiple malformation syndrome with facial-limb defects as major feature (disorder)
Multiple malformation syndrome with facial-limb defects as major feature
polymalformatief syndroom met defect van aangezicht en extremiteit als voornaamst kenmerk
syndroom van multipele malformaties met defect van aangezicht en extremiteit als voornaamste kenmerk
syndroom van multipele malformaties met defect van aangezicht en extremiteit als voornaamst kenmerk
Id23359005
StatusPrimitive
Associated morphologyMorphologically abnormal structure
Finding siteLimb structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyMorphologically abnormal structure
Finding siteFace structure
OccurrenceCongenital
Pathological processPathological developmental process
ICD-10 complex map reference set
TargetQ87.5
RuleTRUE
AdviceALWAYS Q87.5
CorrelationSNOMED CT source code to target map code correlation not specified
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20q11.2 microdeletion syndrome
Aase Smith type 1 syndrome
Acro-oto-ocular syndrome
Acrocallosal syndrome
Acrocephalopolydactyly
Acrocraniofacial dysostosis
Acrofacial dysostosis Catania type
Acrofacial dysostosis Catania type
Acrofacial dysostosis Kennedy Teebi type
Acrofacial dysostosis Kennedy Teebi type
Acrofacial dysostosis Palagonia type
Acrofacial dysostosis Palagonia type
Acrofacial dysostosis Rodriguez type
Acrofacial dysostosis Rodriguez type
Acrofrontofacionasal dysostosis
Acrofrontofacionasal dysostosis
Acrofrontofacionasal dysostosis type 2
Acromegaloid facial appearance syndrome
Acrorenal mandibular syndrome
Adducted thumbs and arthrogryposis syndrome Christian type
Alopecia, contracture, dwarfism, intellectual disability syndrome
Arachnodactyly and intellectual disability with facial dysmorphism syndrome
Arachnodactyly with abnormal ossification and intellectual disability syndrome
Arthrogryposis and ectodermal dysplasia syndrome
Autosomal dominant myopia, midfacial retrusion, sensorineural hearing loss, rhizomelic dysplasia syndrome
Autosomal recessive distal osteolysis syndrome
Autosomal recessive facio-digito-genital syndrome
B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome
Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
Bohring Opitz syndrome
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome
Brachymorphism with onychodysplasia and dysphalangism syndrome
Brachytelephalangy, facial dysmorphism, Kallmann syndrome
Brain malformation, congenital heart disease, postaxial polydactyly syndrome
Camptodactyly syndrome Guadalajara type 1
Camptodactyly syndrome Guadalajara type 3
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome
Chitty Hall Baraitser syndrome
Choanal atresia with radial ray hypoplasia
CLAPO syndrome
Cloverleaf skull with multiple congenital anomalies syndrome
Coffin-Lowry syndrome
Congenital omphalocele, diaphragmatic hernia, cardiovascular anomalies, radial ray defect syndrome
Cortical blindness, intellectual disability, polydactyly syndrome
Craniodigital syndrome and intellectual disability syndrome
Craniofacial conodysplasia syndrome
Craniofacial conodysplasia syndrome
Craniofacial deafness hand syndrome
Craniomicromelic syndrome
Craniosynostosis Boston type
Crisponi syndrome
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome
Dislocation of hip and facial dysmorphism syndrome
Distal limb deficiency with micrognathia syndrome
Duplication of eyebrow and syndactyly syndrome
Dyssegmental dysplasia Silverman Handmaker type
Ectrodactyly-ectodermal dysplasia-clefting syndrome
Emery Nelson syndrome
Endocrine-cerebro-osteodysplasia syndrome
Epilepsy telangiectasia syndrome
Epiphyseal dysplasia, hearing loss, dysmorphism syndrome
Eye defects, arachnodactyly, cardiopathy syndrome
Femoral hypoplasia - unusual facies syndrome
FG syndrome
Filippi syndrome
Fryns syndrome
Hadziselimovic syndrome
Hay-Wells syndrome of ectodermal dysplasia
Hemifacial microsomia with radial defect syndrome
Ichthyosis, oral and digital anomalies syndrome
Infantile spasm and broad thumb syndrome
Intellectual disability, brachydactyly, Pierre Robin syndrome
Intellectual disability, facial dysmorphism, hand anomalies syndrome
Intellectual disability, polydactyly, uncombable hair syndrome
Jawad syndrome
Juberg Hayward syndrome
Keipert syndrome
Keutel syndrome
Larsen syndrome
Lethal faciocardiomelic dysplasia
Lethal multiple pterygium syndrome
Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies
Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
Microcephalus with albinism and digital anomaly syndrome
Microcephalus with brachydactyly and kyphoscoliosis syndrome
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
Micrognathia, recurrent infections, behavioral abnormalities, mild intellectual disability syndrome
Microlissencephaly micromelia syndrome
Mietens syndrome
Miller syndrome
Morava Mehes syndrome
Multicentric osteolysis nodulosis arthropathy spectrum
Nager syndrome
Neurofaciodigitorenal syndrome
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome
Oculodentodigital syndrome
Ophthalmomandibulomelic dysplasia
Oral-facial-digital syndrome14
Oromandibular-limb hypogenesis spectrum2
Patterson Stevenson Fontaine syndrome
Pelviscapular dysplasia
Prieto Badia Mulas syndrome
Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome
Pseudoaminopterin syndrome
Pterygium colli with intellectual disability and digital anomaly syndrome
Pyknoachondrogenesis
Radioulnar synostosis with developmental delay and hypotonia syndrome
Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome
Roberts-SC phocomelia syndrome
Robin sequence and oligodactyly syndrome
Ruvalcaba syndrome
Schilbach Rott syndrome
Scholte syndrome
Seaver Cassidy syndrome
Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome
Short ulna, dysmorphism, hypotonia, intellectual disability syndrome
Spinocerebellar ataxia dysmorphism syndrome
Splenogonadal fusion, limb defect, micrognathia syndrome
Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome
Spondyloepiphyseal dysplasia Cantu type
STAR syndrome
Steinfeld syndrome
Tel Hashomer camptodactyly syndrome
Telecanthus, hypertelorism, strabismus, pes cavus syndrome
Townes syndrome
TRAF7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome
Trichorhinophalangeal syndrome4
Trigonocephaly with bifid nose and acral anomaly syndrome
Trigonocephaly with broad thumb syndrome
Trisomy 10p
Ulbright Hodes syndrome
Ventricular extrasystoles with syncope, perodactyly and Robin sequence syndrome
Verloove Vanhorick Brubakk syndrome
X-linked intellectual disability Stevenson type
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome
X-linked mandibulofacial dysostosis
X-linked mandibulofacial dysostosis
Zechi Ceide syndrome