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65094009: Multiple malformation syndrome with facial 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
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
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
108174011 Multiple malformation syndrome with facial defects as major feature en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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
804559017 Multiple malformation syndrome with facial defects as major feature (disorder) en Fully specified name Active 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
4603111000241111 syndrome d'anomalies congénitales multiples avec anomalies faciales comme caractéristiques principales fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
4603111000241111 syndrome d'anomalies congénitales multiples avec anomalies faciales comme caractéristiques principales fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

565 descendants. Search Descendants:

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 Existential restriction modifier (core metadata concept)
Multiple malformation syndrome with facial defects as major feature Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
Multiple malformation syndrome with facial defects as major feature Associated morphology Congenital malformation false Inferred relationship Existential restriction modifier (core metadata concept)
Multiple malformation syndrome with facial defects as major feature Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Multiple malformation syndrome with facial defects as major feature Is a Congenital anomaly of face (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Multiple malformation syndrome with facial defects as major feature Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 1
Multiple malformation syndrome with facial defects as major feature Finding site Face structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Multiple malformation syndrome with facial defects as major feature Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Multiple malformation syndrome with facial defects as major feature Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group
First arch syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Multiple malformation syndrome with facial-limb defects as major feature Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Melnick-Fraser syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Marshall syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Fraser syndrome Is a False Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Robin sequence Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Disorder with characteristics of varying degrees of deafness and minor defects in structures arising from neural crest, including pigmentation anomalies of eyes, hair, and skin. Clinical manifestations vary within and between families. Frequent clinical manifestations include congenital sensorineural deafness, heterochromic or hypoplastic blue irides, white forelock or early greying of the scalp hair before the age of 30 years. The disease is genetically heterogeneous. To date, mutations in 6 different genes have been identified: PAX3 (2q36.1), MITF (3p14-p13), SNAI2 (8q11.21), SOX10 (22q13.1), EDNRB (13q22.3), and EDN3 (20q13.32). Is a False Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Otocephalic syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Grob's syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
syndrome de Cayler Is a False Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Cranio-orbito-ocular dysraphia syndrome Is a False Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Cleft lip sequence (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Van der Woude syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Wildervanck syndrome (disorder) Is a False Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Blepharophimosis syndrome Is a False Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
A congenital disorder of craniofacial development with characteristics of bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects. The syndrome is caused by mutations in the TCOF1 gene (5q32) encoding the nucleolar phosphoprotein Treacle or in the POLR1C (6p21.1) or POLR1D (13q12.2) genes, coding for RNA polymerase I and III subunits. Transmission is autosomal dominant with 90% penetrance and variable expressivity, even among affected patients within the same family. Mutations in POLR1C gene are inherited in autosomal recessive manner. Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Frontonasal dysplasia sequence Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Congenital nonprogressive myopathy with Moebius and Robin sequences (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) Is a False Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Char syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Mandibulofacial dysostosis with microcephaly Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
McDonough syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Delayed membranous cranial ossification (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
A rare X-linked malformation syndrome characterized by craniofacial abnormalities such as uni- or bicoronal synostosis, hypertelorism and a bifid nose, grooved or split nails, frizzy hair, abnormalities of the shoulder girdle, hands and feet. Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Acromelic frontonasal dysplasia (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Deafness-craniofacial syndrome is characterized by the association of congenital hearing loss and facial dysmorphism (facial asymmetry, a broad nasal root and small nasal alae). It has been described in two members (father and daughter) of one Jewish family. Temporal alopecia was also noted. Transmission appeared to be autosomal dominant. Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Crane Heise syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Maxillonasal dysplasia syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Cataract-aberrant oral frenula-growth delay syndrome is characterized by cataracts and short stature associated with variable anomalies, including aberrant oral frenula, a characteristic facial appearance (posteriorly angulated ears, upslanting palpebral fissures, small nose, ptosis and epicanthal folds) cavernous hemangiomas and hernias. It has been described in a mother and her two children. It is transmitted as an autosomal dominant trait. Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Frontofacionasal dysplasia syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Short stature with craniofacial anomalies and genital hypoplasia syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Holoprosencephaly and postaxial polydactyly syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Goldblatt Wallis syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Ichthyosis cheek eyebrow syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Fryns macrocephaly Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Microcephaly with deafness and intellectual disability syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Mehes syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Shprintzen Goldberg omphalocele syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Potter sequence cleft lip and palate cardiopathy syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Trisomy 17p is a rare chromosomal abnormality resulting from the duplication of the short arm of chromosome 17 and characterized by pre- and post-natal growth retardation, developmental delay, hypotonia, digital abnormalities, congenital heart defects, and distinctive facial features. Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Syndromic hypoplasia of orbital border (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Koolen De Vries syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Harrod syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
A developmental disorder characterized by typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia. Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Camptodactyly with joint contracture and facial skeletal defect syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
A very rare syndrome described in three siblings of one Japanese family and characterized by congenital heart disease, round face with depressed nasal bridge, small mouth, short stature, and relatively dark skin and typical dermatoglyphic anomalies, and intellectual deficit. Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
3C syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Ablepharon macrostomia syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability, Seemanova type is characterized by microcephaly, intellectual deficit, growth retardation and hypogenitalism. It has been described in four boys from one family. A characteristic facies and ophthalmologic anomalies were also present and included microphthalmia, microcornea and cataract. Transmission is X-linked. Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Syndromic X-linked intellectual disability type 11 (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability Siderius type (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability Stoll type (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Pallister W syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
14q11.2 microdeletion syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Shprintzen Goldberg craniosynostosis syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Pettigrew syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability and epilepsy with progressive joint contracture and facial dysmorphism syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Short stature Brussels type Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Branchioskeletogenital syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Microcephalus cleft palate syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Cleft palate with short stature and vertebral anomaly syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
A very rare syndrome characterized by the association of gingival fibromatosis and craniofacial dysmorphism. Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability with plagiocephaly syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
8q22.1 microdeletion syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Wilson-Turner syndrome (WTS) is a very rare X-linked multisystem genetic disease characterized by intellectual disability, truncal obesity, gynecomastia, hypogonadism, dysmorphic facial features, and short stature. Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Van den Ende-Gupta syndrome is a very rare syndrome characterized by blepharophimosis, arachnodactyly, joint contractures, and characteristic dysmorphic features. Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Xq28-Duplikationssyndrom, proximales Is a False Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
A very rare congenital genetic neurological disorder characterised by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities. Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
A very rare multiple congenital anomaly syndrome characterized by the presence of anophthalmia or severe microphthalmia, cleft lip/palate, facial cleft and sacral neural tube defects, along with various additional anomalies including congenital glaucoma, iris coloboma, primary hyperplastic vitreous, hypertelorism, low-set ears, clinodactyly, choanal atresia/stenosis, dysgenesis of sacrum, tethering of spinal cord, syringomyelia, hypoplasia of corpus callosum, cerebral ventriculomegaly and endocrine abnormalities. An autosomal recessive inheritance has been suggested. Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate. Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Arthrogryposis multiplex congenita and whistling face syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Cerebro-facio-thoracic dysplasia (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
CHIME syndrome is a rare ectodermal dysplasia syndrome characterised by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy. Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Contracture with ectodermal dysplasia and orofacial cleft syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Craniofacial dyssynostosis syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Craniosynostosis and intracranial calcification syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionising radiation syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Cerebrooculonasal syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Ehlers-Danlos syndrome musculocontractural type (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Deafness with skeletal dysplasia and lip granuloma syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Frank-Ter Haar syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Chudley Lowry Hoar syndrome Is a False Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
CODAS syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Fine Lubinsky syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Hall Riggs syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Short stature with webbed neck and congenital heart disease syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes. Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Deafness and intellectual disability Martin Probst type syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Goldberg Shprintzen megacolon syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Hydrocephalus, cardiac malformation, dense bone syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
BNAR syndrome is a very rare multiple congenital anomaly syndrome characterised by a bifid nose (with bulbous nasal tip but not associated with hypertelorism) with or without the presence of anal defects (i.e. anteriorly placed anus, rectal stenosis or atresia) and renal dysplasia and without intellectual disability. BNAR syndrome is phenotypically related to Fraser syndrome and oculotrichoanal syndrome. Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
A rare multiple congenital anomalies/dysmorphic syndrome characterised by global developmental delay, mild intellectual disability, seizures, obesity, and dysmorphic facial features (including large, bulbous nose, prominent philtrum, wide mouth). Additional reported features are bilateral pes planus, scoliosis, and spina bifida occulta. Brain MRI may show mild ventricular dilatation. Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Holmes Gang syndrome Is a False Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)

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