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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
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
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

548 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 anomalie du développement 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 Gang syndrome Is a False Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
syndrome d'hypertrichose-faciès acromégaloïde 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
Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome 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
Auriculoocular anomaly and cleft lip syndrome 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 Behmel syndrome type 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 Jasper syndrome 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
Hypospadias, hypertelorism, coloboma, deafness syndrome 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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