FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.21  |  FHIR Version n/a  User: [n/a]

23359005: Multiple malformation syndrome with facial-limb 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
39212019 Multiple malformation syndrome with facial-limb defects as major feature en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
752870014 Multiple malformation syndrome with facial-limb defects as major feature (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core


152 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Multiple malformation syndrome with facial-limb defects as major feature Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Multiple malformation syndrome with facial-limb defects as major feature morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 1
Multiple malformation syndrome with facial-limb defects as major feature morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 2
Multiple malformation syndrome with facial-limb defects as major feature Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Multiple malformation syndrome with facial-limb defects as major feature survenue (attribut) congénital true Inferred relationship Some 1
Multiple malformation syndrome with facial-limb defects as major feature localisation d'une constatation (attribut) structure d'un membre false Inferred relationship Some 1
Multiple malformation syndrome with facial-limb defects as major feature morphologie associée (attribut) Congenital anomaly false Inferred relationship Some 2
Multiple malformation syndrome with facial-limb defects as major feature est un(e) (attribut) Congenital anomaly of limb true Inferred relationship Some
Multiple malformation syndrome with facial-limb defects as major feature est un(e) (attribut) Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
Multiple malformation syndrome with facial-limb defects as major feature est un(e) (attribut) Multiple malformation syndrome with limb defect as major feature true Inferred relationship Some
Multiple malformation syndrome with facial-limb defects as major feature morphologie associée (attribut) Congenital malformation false Inferred relationship Some 1
Multiple malformation syndrome with facial-limb defects as major feature morphologie associée (attribut) Congenital malformation false Inferred relationship Some 1
Multiple malformation syndrome with facial-limb defects as major feature localisation d'une constatation (attribut) structure d'un membre true Inferred relationship Some 1
Multiple malformation syndrome with facial-limb defects as major feature survenue (attribut) congénital true Inferred relationship Some 2
Multiple malformation syndrome with facial-limb defects as major feature morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 2
Multiple malformation syndrome with facial-limb defects as major feature localisation d'une constatation (attribut) face true Inferred relationship Some 2
Multiple malformation syndrome with facial-limb defects as major feature survenue (attribut) congénital false Inferred relationship Some 3
Multiple malformation syndrome with facial-limb defects as major feature morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 3
Multiple malformation syndrome with facial-limb defects as major feature localisation d'une constatation (attribut) structure d'un membre false Inferred relationship Some 2
Multiple malformation syndrome with facial-limb defects as major feature localisation d'une constatation (attribut) face false Inferred relationship Some 3
Multiple malformation syndrome with facial-limb defects as major feature morphologie associée (attribut) Developmental abnormality false Inferred relationship Some
Multiple malformation syndrome with facial-limb defects as major feature localisation d'une constatation (attribut) Musculoskeletal structure of limb false Inferred relationship Some
Multiple malformation syndrome with facial-limb defects as major feature survenue (attribut) congénital false Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Some
Schilbach Rott syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Some
Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Some
Intellectual disability, balding, patella luxation, acromicria syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Some
syndrome oto-palato-digital type 1 (trouble) est un(e) (attribut) False Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Some
Distal limb deficiency with micrognathia syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Some
Endocrine-cerebro-osteodysplasia syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Some
Microlissencephaly micromelia syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Some
Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Some
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Some
Patterson Stevenson Fontaine syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Some
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Some
Keutel syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Some
Crisponi syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Some
Craniomicromelic syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Some
Autosomal recessive faciodigitogenital syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Some
Neurofaciodigitorenal syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Some
Hemifacial microsomia with radial defect syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Some
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Some
Cortical blindness, intellectual disability, polydactyly syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Some
Ichthyosis, oral and digital anomalies syndrome est un(e) (attribut) True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Some
Epilepsy telangiectasia syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Some
Spinocerebellar ataxia dysmorphism syndrome est un(e) (attribut) True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Some
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Some
Duplication of eyebrow and syndactyly syndrome est un(e) (attribut) True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Some
forme létale du syndrome des ptérygiums multiples (trouble) est un(e) (attribut) True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Some
Craniodigital syndrome and intellectual disability syndrome est un(e) (attribut) True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Some
Intellectual disability, polydactyly, uncombable hair syndrome est un(e) (attribut) True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Some
Intellectual disability, brachydactyly, Pierre Robin syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Some
Dislocation of hip and facial dysmorphism syndrome est un(e) (attribut) True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Some
Keipert syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Some
Verloove Vanhorick Brubakk syndrome est un(e) (attribut) True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Some
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome est un(e) (attribut) True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Some
dysplasie dyssegmentaire type Silverman-Handmaker est un(e) (attribut) True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Some
syndrome de brachydactylie, mésomélie, déficience intellectuelle, malformation cardiaque est un(e) (attribut) True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Some
Epiphyseal dysplasia, hearing loss, dysmorphism syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Some
Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Some
Otopalatodigital syndrome est un(e) (attribut) False Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Some
Infantile spasm and broad thumb syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Some
Choanal atresia with radial ray hypoplasia est un(e) (attribut) True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Some
syndrome de séquence de Robin-oligodactylie est un(e) (attribut) True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Some

Start Page 2 of 2


Reference Sets

Client's clinical problems, conditions, diagnoses, symptoms, findings, complaints reference set (foundation metadata concept)

Back to Start