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
Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
2p13.2 microdeletion syndrome	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
11p15.4 microduplication syndrome (disorder)	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
3q27.3 microdeletion syndrome (disorder)	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Facial dysmorphism, lens dislocation, anterior segment abnormalities, spontaneous filtering bleb syndrome (disorder)	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Familial omphalocele syndrome with facial dysmorphism (disorder)	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Kagami Ogata syndrome	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Pilotto syndrome	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Hepatic fibrosis, renal cyst, intellectual disability syndrome (disorder)	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome (disorder)	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Edinburgh malformation syndrome (disorder)	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Intellectual disability, short stature, hypertelorism syndrome	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Teebi Shaltout syndrome	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome (disorder)	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Autism spectrum disorder due to AUTS2 deficiency	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
15q overgrowth syndrome	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Facial dysmorphism, immunodeficiency, livedo, short stature syndrome	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Thakker Donnai syndrome	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Spondyloepimetaphyseal dysplasia Genevieve type (disorder)	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
XYLT1-CDG - xylosyltransferase 1 congenital disorder of glycosylation	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Mandibular hypoplasia, deafness, progeroid syndrome (disorder)	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Roifman syndrome (disorder)	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Severe intellectual disability, short stature, behavioural abnormalities, facial dysmorphism syndrome	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
9q31.1q31.3 microdeletion syndrome	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
13q12.3 microdeletion syndrome (disorder)	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome (disorder)	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
14q24.1q24.3 microdeletion syndrome	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Mandibulofacial dysostosis, macroblepharon, macrostomia syndrome	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Severe intellectual disability, poor language, strabismus, grimacing face, long fingers syndrome (disorder)	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Intellectual disability, craniofacial dysmorphism, cryptorchidism syndrome	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome (disorder)	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Intellectual disability, hypotonia, brachycephaly, pyloric stenosis, cryptorchidism syndrome (disorder)	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Craniofacial dysplasia osteopenia syndrome	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Flat face, microstomia, ear anomaly syndrome (disorder)	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Pitt Hopkins-like syndrome (disorder)	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Multiple congenital anomalies, hypotonia, seizures syndrome type 2	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder)	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Progeroid and marfanoid aspect, lipodystrophy syndrome (disorder)	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Intellectual disability, severe speech delay, mild dysmorphism syndrome (disorder)	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Temple syndrome (disorder)	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Blepharophimosis, intellectual disability syndrome, Verloes type (disorder)	Is a	False	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Syndromic multisystem autoimmune disease due to itchy E3 ubiquitin protein ligase deficiency (disorder)	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Lethal polymalformative syndrome Boissel type	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Marfanoid habitus, inguinal hernia, advanced bone age syndrome (disorder)	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Severe intellectual disability, progressive spastic diplegia syndrome (disorder)	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Intellectual disability, facial dysmorphism syndrome due to SET domain containing 5 haploinsufficiency (disorder)	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome (disorder)	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Facial dysmorphism, developmental delay, behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion (disorder)	Is a	False	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Noonan syndrome-like disorder with juvenile myelomonocytic leukaemia	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Thin ribs, tubular bones, dysmorphism syndrome	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
RIDDLE syndrome	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Macrocephaly, intellectual disability, autism syndrome (disorder)	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Stickler syndrome type 3 (disorder)	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Ankyloblepharon filiforme adnatum with cleft palate syndrome	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Reunion Island Larsen-liknande syndrom	Is a	False	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
X-linked intellectual disability due to GRIA3 mutations	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion (disorder)	Is a	False	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Melnick-Needles syndrome	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Multiple congenital anomalies, hypotonia, seizures syndrome (disorder)	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Aneurysm osteoarthritis syndrome (disorder)	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Developmental delay, facial dysmorphism syndrome due to mediator complex subunit 13 like deficiency (disorder)	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
21q22.11q22.12 microdeletion syndrome	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Leprechaunism syndrome	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Hennekam lymphangiectasia-lymphedema syndrome (disorder)	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Ascher's syndrome	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Desbuquois syndrome	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Winchester syndrome	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Williams syndrome	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Fragile X syndrome	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Angelman syndrome	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Neu-Laxova syndrome	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Marshall-Smith syndrome	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Blepharophimosis and mental retardation syndrome (disorder)	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Myhre syndrome	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Barber-Say syndrome (disorder)	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Megalencephaly capillary malformation	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Antley-Bixler syndrome	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
14q32 deletion syndrome	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Crouzon syndrome	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Oculo-auriculo-vertebral spectrum	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Microcephalus co-occurrent with cervical spine fusion anomaly (disorder)	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
16p11.2p12.2 microdeletion syndrome (disorder)	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Combined deficiency of sialidase AND beta galactosidase	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Four X syndrome	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Methyl-cytosine phosphate guanine binding protein-2 duplication syndrome (disorder)	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
X-linked intellectual disability hypotonic face syndrome	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
2p15p16.1 microdeletion syndrome (disorder)	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
N syndrome (disorder)	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome (disorder)	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome (disorder)	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Microcephaly, corpus callosum and cerebellar vermis hypoplasia, facial dysmorphism, intellectual disability syndrome (disorder)	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Brain malformations, musculoskeletal abnormalities, facial dysmorphism, intellectual disability 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)