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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

515 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Multiple malformation syndrome with facial defects as major feature morphologie associée (attribut) structure anormale sur le plan morphologique 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
Multiple malformation syndrome with facial defects as major feature morphologie associée (attribut) Congenital malformation false Inferred relationship Some
Multiple malformation syndrome with facial defects as major feature est un(e) (attribut) syndrome de malformations multisystémiques true Inferred relationship Some
Multiple malformation syndrome with facial defects as major feature survenue (attribut) congénital true Inferred relationship Some 1
Multiple malformation syndrome with facial defects as major feature est un(e) (attribut) Congenital anomaly of face (disorder) true Inferred relationship Some
Multiple malformation syndrome with facial defects as major feature morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 1
Multiple malformation syndrome with facial defects as major feature localisation d'une constatation (attribut) face true Inferred relationship Some 1
Multiple malformation syndrome with facial defects as major feature survenue (attribut) congénital false Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Dysmorphism, short stature, deafness, disorder of sex development syndrome est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
syndrome marfanoïde-déficience intellectuelle autosomique récessif est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Stimmler syndrome est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Pseudoprogeria syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
SCARF syndrome est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Oculo-palato-digital syndrome est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
dysplasie oculo-dento-osseuse est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
syndrome de Kabuki est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Solitary median maxillary central incisor syndrome est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Facial dysmorphism, cleft palate, loose skin syndrome est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
syndrome de dysmorphie faciale, surdité de transmission, malformation cardiaque est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Connective tissue disorder due to lysyl hydroxylase-3 deficiency est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Craniofaciofrontodigital syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
syndrome de déficience intellectuelle-obésité-malformations cérébrales-dysmorphie faciale est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Cerebrofacioarticular syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Velofacioskeletal syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Wiedemann Steiner syndrome est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
syndrome de mèches blanches et anomalies multiples est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
syndrome d'hypotonie-trouble sévère du langage-retard cognitif sévère est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Intellectual disability Wolff type est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
syndrome de Larsen-like de type B3GAT3 (beta-1,3 glucuronyltransferase 3) est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Macrocephaly and developmental delay syndrome est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Malan overgrowth syndrome est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Oculomaxillofacial dysostosis (disorder) est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
syndrome de Marfan néonatal est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Otofaciocervical syndrome est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Cryptorchidism, arachnodactyly, intellectual disability syndrome est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
King Denborough syndrome est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Microcephalic primordial dwarfism Montreal type est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Nijmegen breakage syndrome-like disorder (disorder) est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Diencephalic mesencephalic junction dysplasia (disorder) est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Tall stature, intellectual disability, facial dysmorphism syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Microcephalic primordial dwarfism Alazami type (disorder) est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Prader-Willi-like syndrome est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Autosomal recessive chorioretinopathy and microcephaly syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Microcephalic primordial dwarfism Dauber type est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
5p13 microduplication syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
2p13.2 microdeletion syndrome est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
11p15.4 microduplication syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
3q27.3 microdeletion syndrome (disorder) est un(e) (attribut) 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) est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Familial omphalocele syndrome with facial dysmorphism (disorder) est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Kagami Ogata syndrome est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Pilotto syndrome est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Hepatic fibrosis, renal cyst, intellectual disability syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Edinburgh malformation syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Intellectual disability, short stature, hypertelorism syndrome est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some
Teebi Shaltout syndrome est un(e) (attribut) True Multiple malformation syndrome with facial defects as major feature Inferred relationship Some

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