FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server  |   User: [n/a]

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 Reference Sets
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 GB English: Preferred (foundation metadata concept)
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 GB English: Preferred (foundation metadata concept)

435 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 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 Congenital malformation 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 Developmental anomaly 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
First arch syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Multiple malformation syndrome with facial-limb defects as major feature Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Melnick-Fraser syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Marshall syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Fraser syndrome Is a False Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Robin sequence Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Waardenburg's syndrome Is a False Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Otocephalic syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Grob's syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Asymmetric crying face association Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Cranio-orbito-ocular dysraphia syndrome Is a False Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Cleft lip sequence (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Van der Woude syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Wildervanck syndrome Is a False Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Blepharophimosis syndrome Is a False Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Treacher Collins syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Frontonasal dysplasia sequence Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Congenital nonprogressive myopathy with Moebius and Robin sequences (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) Is a False Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Char syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Mandibulofacial dysostosis with microcephaly Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
McDonough syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Delayed membranous cranial ossification (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Craniofrontonasal dysplasia (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Acromelic frontonasal dysplasia (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Deafness craniofacial syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Crane Heise syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Maxillonasal dysplasia syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Cataract with aberrant oral frenula and growth delay syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Frontofacionasal dysplasia syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Short stature with craniofacial anomalies and genital hypoplasia syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Holoprosencephaly and postaxial polydactyly syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Hypospadias and intellectual disability syndrome Goldblatt type (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Ichthyosis cheek eyebrow syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Microcephaly with deafness and intellectual disability syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Delayed speech and facial asymmetry with strabismus and ear lobe skin crease syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Shprintzen Goldberg omphalocele syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Potter sequence cleft lip and palate cardiopathy syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Trisomy 17p (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Syndromic hypoplasia of orbital border (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Koolen De Vries syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Harrod syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Wolf Hirschhorn syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Camptodactyly with joint contracture and facial skeletal defect syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Sonoda syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
3C syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Ablepharon macrostomia syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
X-linked intellectual disability Seemanova type (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Syndromic X-linked intellectual disability type 11 (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
X-linked intellectual disability Siderius type (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
X-linked intellectual disability Stoll type (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Pallister W syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
14q11.2 microdeletion syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Shprintzen Goldberg craniosynostosis syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
X-linked intellectual disability and epilepsy with progressive joint contracture and facial dysmorphism syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
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 Some
Short stature Brussels type (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
BSG syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Microcephalus cleft palate syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
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 Some
Cleft palate with short stature and vertebral anomaly syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Gingival fibromatosis with facial dysmorphism syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
X-linked intellectual disability with plagiocephaly syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
8q22.1 microdeletion syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
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 Some
Wilson Turner syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Van den Ende-Gupta syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Chromosome Xq28 trisomy (disorder) Is a False Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Temtamy syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Anophthalmia plus syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Arrhinia with choanal atresia and microphthalmia syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Arthrogryposis multiplex congenita and whistling face syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Cerebro-facio-thoracic dysplasia (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Craniofacial dyssynostosis syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Craniosynostosis and intracranial calcification syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionizing radiation syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Cerebrooculonasal syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Ehlers-Danlos syndrome musculocontractural type (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Deafness with skeletal dysplasia and lip granuloma syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Frank-Ter Haar syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Chudley Lowry Hoar syndrome Is a False Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Cerebro-oculo-dento-auriculo-skeletal syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Fine Lubinsky syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Hall Riggs syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Short stature with webbed neck and congenital heart disease syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Short tarsus with absence of lower eyelashes syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Deafness and intellectual disability Martin Probst type syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Goldberg Shprintzen megacolon syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Hydrocephalus, cardiac malformation, dense bone syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Bifid nose, anorectal anomaly, renal anomaly syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Intellectual disability, epilepsy, bulbous nose syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Holmes Gang syndrome Is a False Multiple malformation syndrome with facial defects as major feature Inferred relationship Some

Page 1 of 3 Next End


This concept is not in any reference sets

Back to Start