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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
39213012 Multiple malformation syndrome with facial-limb defects as major feature, NOS en Synonym (core metadata concept) Inactive 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 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
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder) Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Some
Duplication of eyebrow and syndactyly syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Some
Lethal multiple pterygium syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Some
Craniodigital syndrome and intellectual disability syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Some
Intellectual disability, polydactyly, uncombable hair syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Some
Intellectual disability, brachydactyly, Pierre Robin syndrome (disorder) Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Some
Dislocation of hip and facial dysmorphism syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Some
Keipert syndrome (disorder) Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Some
Verloove Vanhorick Brubakk syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Some
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Some
Dyssegmental dysplasia Silverman Handmaker type (disorder) Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Some
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Some
Epiphyseal dysplasia, hearing loss, dysmorphism syndrome (disorder) Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Some
Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder) Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Some
Otopalatodigital syndrome Is a False Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Some
Infantile spasm and broad thumb syndrome (disorder) Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Some
Choanal atresia with radial ray hypoplasia Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Some
Robin sequence and oligodactyly syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Some
Jawad syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Some
Zechi Ceide syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Some
Intellectual disability, facial dysmorphism, hand anomalies syndrome (disorder) Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Some
Short ulna, dysmorphism, hypotonia, intellectual disability syndrome (disorder) Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Some
Emery Nelson syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Some
Arthrogryposis and ectodermal dysplasia syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Some
Femoral hypoplasia - unusual facies syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Some
Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Some
Acrofrontofacionasal dysostosis type 2 Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Some
Craniofacial deafness hand syndrome (disorder) Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Some
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 Some
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 Some
Camptodactyly syndrome Guadalajara type 3 (disorder) Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Some
Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Some
Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Some
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 Some
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 Some
Eye defects, arachnodactyly, cardiopathy syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Some
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 Some
TRAF7-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 Some
20q11.2 microdeletion syndrome (disorder) Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Some
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 Some
B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome (disorder) Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Some
PDE4D haploinsufficiency syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Some
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 Some
16p12.1p12.3 triplication syndrome (disorder) Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Some
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 Some
4q25 proximal deletion syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Some
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 Some
Robinow syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Some
Multiple epiphyseal dysplasia Lowry type (disorder) Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Some
Spondylometaphyseal dysplasia, corneal dystrophy syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Some
KLHL7-related Bohring Opitz-like syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Some
Alkuraya Kucinskas syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Some

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