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
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

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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)