65094009: Multiple malformation syndrome with facial defects as major feature (disorder)

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

\Finding of head and neck region\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

\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature
\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial 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
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial 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
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial 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

108174011 Multiple malformation syndrome with facial defects as major feature en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
108175012 Multiple malformation syndrome with facial defects as major feature, NOS en Synonym (core metadata concept) Inactive Only initial character case insensitive (core metadata concept) SNOMED CT core
804559017 Multiple malformation syndrome with facial defects as major feature (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
2513511000052118 multipelt missbildningssyndrom med ansiktsdefekter som mest väsentliga särdrag sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Multiple malformation syndrome with facial defects as major feature	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
Multiple malformation syndrome with facial defects as major feature	Occurrence	Congenital	false	Inferred relationship	Some
Multiple malformation syndrome with facial defects as major feature	Associated morphology	medfödd missbildning	false	Inferred relationship	Some
Multiple malformation syndrome with facial defects as major feature	Occurrence	Congenital	true	Inferred relationship	Some	1
Multiple malformation syndrome with facial defects as major feature	Is a	Congenital anomaly of face (disorder)	true	Inferred relationship	Some
Multiple malformation syndrome with facial defects as major feature	Associated morphology	utvecklingsabnormitet	false	Inferred relationship	Some	1
Multiple malformation syndrome with facial defects as major feature	Finding site	Face structure	true	Inferred relationship	Some	1
Multiple malformation syndrome with facial defects as major feature	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Multiple malformation syndrome with facial defects as major feature	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Holmes-Gangs syndrom	Is a	False	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
syndrom med hypertrikos och ansiktsutseende av akromegaloid typ	Is a	False	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Hypomandibular faciocranial dysostosis (disorder)	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Juberg Marsidi syndrome (disorder)	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Puerto Rican infant hypotonia syndrome (disorder)	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Blepharonasofacial malformation syndrome (disorder)	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome (disorder)	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Lymphedema, atrial septal defect, facial changes syndrome (disorder)	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Hypertelorism with microtia and facial clefting syndrome (disorder)	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Isotretinoin embryopathy-like syndrome (disorder)	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Kapur Toriello syndrome (disorder)	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Macrocephaly, short stature, paraplegia syndrome (disorder)	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Oculocerebrofacial syndrome Kaufman type (disorder)	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Okamoto syndrome (disorder)	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome (disorder)	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Ectodermal dysplasia with blindness syndrome (disorder)	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder)	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
syndrom med osteopeni, myopi, dövhet, intellektuell funktionsnedsättning och medfödd ansiktsmissbildning	Is a	False	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Osteosclerosis, developmental delay, craniosynostosis syndrome (disorder)	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Overgrowth, macrocephaly, facial dysmorphism syndrome (disorder)	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Severe X-linked intellectual disability Gustavson type (disorder)	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Perlman syndrome (disorder)	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder)	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Agnathia, holoprosencephaly, situs inversus syndrome (disorder)	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder)	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
syndrom med aurikulookulär anomali och läppspalt	Is a	False	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Thickened earlobe with conductive deafness syndrome (disorder)	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Toriello Carey syndrome	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Faciocardiorenal syndrome (disorder)	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Microbrachycephaly, ptosis, cleft lip syndrome (disorder)	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Ramos Arroyo syndrome (disorder)	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Simpson-Golabi-Behmel syndrome (disorder)	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Microcephalic osteodysplastic dysplasia Saul Wilson type (disorder)	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Simpson-Golabi-Behmels syndrom, typ 2	Is a	False	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Polyvalvular heart disease syndrome (disorder)	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Renier-Gabreels-Jaspers syndrom	Is a	False	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Freeman-Sheldon syndrome	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome (disorder)	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Moyamoya angiopathy, short stature, facial dysmorphism, hypergonadotropic hypogonadism syndrome (disorder)	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Kleefstra syndrome (disorder)	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
syndrom med hypospadi, hypertelorism, kolobom och dövhet	Is a	False	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome (disorder)	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Intellectual disability Buenos Aires type (disorder)	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Weaver Williams syndrome (disorder)	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome (disorder)	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Cataract, congenital heart disease, neural tube defect syndrome (disorder)	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
X-linked intellectual disability Nascimento type (disorder)	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Cleft lip retinopathy syndrome (disorder)	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Cyprus facial neuromusculoskeletal syndrome (disorder)	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder)	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
German syndrome (disorder)	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Dysmorphism, pectus carinatum, joint laxity syndrome (disorder)	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Hemifacial hyperplasia strabismus syndrome	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Dysmorphism, short stature, deafness, disorder of sex development syndrome	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Marfanoid habitus with autosomal recessive intellectual disability syndrome	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Stimmler syndrome	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Pseudoprogeria syndrome (disorder)	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
SCARF syndrome	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Oculo-palato-digital syndrome	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Oculodento-osseous dysplasia	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Kabuki make-up syndrome	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Solitary median maxillary central incisor syndrome	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Facial dysmorphism, cleft palate, loose skin syndrome	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Facial dysmorphism, conductive hearing loss, heart defect syndrome	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Connective tissue disorder due to lysyl hydroxylase-3 deficiency	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Craniofaciofrontodigital syndrome (disorder)	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Intellectual disability, obesity, brain malformation, facial dysmorphism syndrome	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Cerebrofacioarticular syndrome (disorder)	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Velofacioskeletal syndrome (disorder)	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome (disorder)	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Wiedemann Steiner syndrome	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
White forelock with malformations syndrome	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Hypotonia, speech impairment, severe cognitive delay syndrome (disorder)	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Intellectual disability Wolff type	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Larsen-like syndrome B3GAT3 type	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Macrocephaly and developmental delay syndrome	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Malan overgrowth syndrome	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Oculomaxillofacial dysostosis (disorder)	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Neonatal Marfan syndrome	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Otofaciocervical syndrome	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Cryptorchidism, arachnodactyly, intellectual disability syndrome	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
King Denborough syndrome	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Microcephalic primordial dwarfism Montreal type	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Nijmegen breakage syndrome-like disorder (disorder)	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Diencephalic mesencephalic junction dysplasia (disorder)	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Tall stature, intellectual disability, facial dysmorphism syndrome (disorder)	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Microcephalic primordial dwarfism Alazami type (disorder)	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Prader-Willi-like syndrome	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Autosomal recessive chorioretinopathy and microcephaly syndrome (disorder)	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Microcephalic primordial dwarfism Dauber type	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
5p13 microduplication syndrome (disorder)	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder)	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some

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Id	Description	Lang	Type	Status	Case?	Module
108174011	Multiple malformation syndrome with facial defects as major feature	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
108175012	Multiple malformation syndrome with facial defects as major feature, NOS	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
804559017	Multiple malformation syndrome with facial defects as major feature (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2513511000052118	multipelt missbildningssyndrom med ansiktsdefekter som mest väsentliga särdrag	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)