23359005: polymalformatief syndroom met defect van aangezicht en extremiteit als voornaamst kenmerk (aandoening)

SNOMED CT Concept\Clinical finding (finding)\...

\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature

\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature

\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature

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

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

6697251000146116 syndroom van multipele malformaties met defect van aangezicht en extremiteit als voornaamste kenmerk nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

8464531000146114 polymalformatief syndroom met defect van aangezicht en extremiteit als voornaamst kenmerk nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

8464541000146118 syndroom van multipele malformaties met defect van aangezicht en extremiteit als voornaamst kenmerk nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

8464551000146115 polymalformatief syndroom met defect van aangezicht en extremiteit als voornaamst kenmerk (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

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	gebrekkige ontwikkeling (afwijkende morfologie)	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	congenitale anomalie (afwijkende morfologie)	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	gebrekkige ontwikkeling (afwijkende morfologie)	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	gebrekkige ontwikkeling (afwijkende morfologie)	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
syndroom van Shprintzen	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-syndroom	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-syndroom (aandoening)	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
syndroom van craniosynostose, dysmorfie en brachydactylie	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

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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
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
6697251000146116	syndroom van multipele malformaties met defect van aangezicht en extremiteit als voornaamste kenmerk	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8464531000146114	polymalformatief syndroom met defect van aangezicht en extremiteit als voornaamst kenmerk	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8464541000146118	syndroom van multipele malformaties met defect van aangezicht en extremiteit als voornaamst kenmerk	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8464551000146115	polymalformatief syndroom met defect van aangezicht en extremiteit als voornaamst kenmerk (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)