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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
Telecanthus, hypertelorism, strabismus, pes cavus syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier
Duplication of eyebrow and syndactyly syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier
Lethal multiple pterygium syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier
Craniodigital syndrome and intellectual disability syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier
Intellectual disability, polydactyly, uncombable hair syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier
Intellectual disability, brachydactyly, Pierre Robin syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier
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
Keipert syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier
Verloove Vanhorick Brubakk syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier
Dyssegmental dysplasia Silverman Handmaker type Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier
Epiphyseal dysplasia, hearing loss, dysmorphism syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier
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
Otopalatodigital syndrome Is a False Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier
Infantile spasm and broad thumb syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier
Choanal atresia with radial ray hypoplasia Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier
Robin sequence and oligodactyly syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier
Jawad syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier
Zechi Ceide syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier
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
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
Emery Nelson syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier
Arthrogryposis and ectodermal dysplasia syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier
Femoral hypoplasia - unusual facies syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier
Diaphragmatic hernia, abnormal face and distal limb anomalies Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier
Acrofrontofacionasal dysostosis type 2 Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier
Craniofacial deafness hand syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier
Congenital omphalocele, diaphragmatic hernia, cardiovascular anomalies, radial ray defect syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier
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
Camptodactyly syndrome Guadalajara type 3 Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier
Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier
Micrognathia, recurrent infections, behavioral abnormalities, mild intellectual disability syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier
Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier
Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier
Eye defects, arachnodactyly, cardiopathy syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier
Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier
Tumor necrosis factor receptor associated factor 7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier
20q11.2 microdeletion syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier
Autosomal dominant myopia, midfacial retrusion, sensorineural hearing loss, rhizomelic dysplasia syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier
B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier
Phosphodiesterase 4D haploinsufficiency syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier
Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier
16p12.1p12.3 triplication syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier
Myosin binding protein C1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier
4q25 proximal deletion syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier
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

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