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720756005: Craniofacial ulnar renal syndrome (disorder)

  • SNOMED CT Concept\Clinical finding (finding)\Disease\...
    • \Genetic disease\Hereditary disease\...
      • \Developmental hereditary disorder\A rare multiple congenital anomalies syndrome characterized by a spectrum of developmental anomalies including cleft lip and/or palate, craniosynostosis, intellectual disability and/or learning disability, radioulnar synostosis, genital and vesicorenal anomalies. Observed facial dysmorphism includes hypertelorism, blepharophimosis, blepharoptosis, high arched eyebrows. Less common features reported include anterior chamber defects, cardiac anomalies, caudal appendage, umbilical hernia/omphalocele and diastasis recti.
      • \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\A rare multiple congenital anomalies syndrome characterized by a spectrum of developmental anomalies including cleft lip and/or palate, craniosynostosis, intellectual disability and/or learning disability, radioulnar synostosis, genital and vesicorenal anomalies. Observed facial dysmorphism includes hypertelorism, blepharophimosis, blepharoptosis, high arched eyebrows. Less common features reported include anterior chamber defects, cardiac anomalies, caudal appendage, umbilical hernia/omphalocele and diastasis recti.
    • \Developmental disorder (disorder)\Developmental hereditary disorder\A rare multiple congenital anomalies syndrome characterized by a spectrum of developmental anomalies including cleft lip and/or palate, craniosynostosis, intellectual disability and/or learning disability, radioulnar synostosis, genital and vesicorenal anomalies. Observed facial dysmorphism includes hypertelorism, blepharophimosis, blepharoptosis, high arched eyebrows. Less common features reported include anterior chamber defects, cardiac anomalies, caudal appendage, umbilical hernia/omphalocele and diastasis recti.
    • \Developmental disorder (disorder)\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\A rare multiple congenital anomalies syndrome characterized by a spectrum of developmental anomalies including cleft lip and/or palate, craniosynostosis, intellectual disability and/or learning disability, radioulnar synostosis, genital and vesicorenal anomalies. Observed facial dysmorphism includes hypertelorism, blepharophimosis, blepharoptosis, high arched eyebrows. Less common features reported include anterior chamber defects, cardiac anomalies, caudal appendage, umbilical hernia/omphalocele and diastasis recti.

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3322017016 Craniofacial ulnar renal syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3322018014 Craniofacial ulnar renal syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3322019018 3MC syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5402471013 A rare multiple congenital anomalies syndrome characterized by a spectrum of developmental anomalies including cleft lip and/or palate, craniosynostosis, intellectual disability and/or learning disability, radioulnar synostosis, genital and vesicorenal anomalies. Observed facial dysmorphism includes hypertelorism, blepharophimosis, blepharoptosis, high arched eyebrows. Less common features reported include anterior chamber defects, cardiac anomalies, caudal appendage, umbilical hernia/omphalocele and diastasis recti. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402472018 A rare multiple congenital anomalies syndrome characterised by a spectrum of developmental anomalies including cleft lip and/or palate, craniosynostosis, intellectual disability and/or learning disability, radioulnar synostosis, genital and vesicorenal anomalies. Observed facial dysmorphism includes hypertelorism, blepharophimosis, blepharoptosis, high arched eyebrows. Less common features reported include anterior chamber defects, cardiac anomalies, caudal appendage, umbilical hernia/omphalocele and diastasis recti. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3322017016 Craniofacial ulnar renal syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3322017016 Craniofacial ulnar renal syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3322018014 Craniofacial ulnar renal syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3322018014 Craniofacial ulnar renal syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3322019018 3MC syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3322020012 A rare developmental disorder, that unifies the overlapping autosomal recessive disorders previously known as Carnevale, Mingarelli, Malpuech and Michels syndromes. The syndrome has characteristics of a spectrum of developmental anomalies that include distinctive facial dysmorphism, cleft lip and/or palate, craniosynostosis, learning disability, radioulnar synostosis and genital and vesicorenal anomalies. Less common features reported include anterior chamber defects, cardiac anomalies, caudal appendage, umbilical hernia/omphalocele and diastasis recti. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402471013 A rare multiple congenital anomalies syndrome characterized by a spectrum of developmental anomalies including cleft lip and/or palate, craniosynostosis, intellectual disability and/or learning disability, radioulnar synostosis, genital and vesicorenal anomalies. Observed facial dysmorphism includes hypertelorism, blepharophimosis, blepharoptosis, high arched eyebrows. Less common features reported include anterior chamber defects, cardiac anomalies, caudal appendage, umbilical hernia/omphalocele and diastasis recti. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402472018 A rare multiple congenital anomalies syndrome characterised by a spectrum of developmental anomalies including cleft lip and/or palate, craniosynostosis, intellectual disability and/or learning disability, radioulnar synostosis, genital and vesicorenal anomalies. Observed facial dysmorphism includes hypertelorism, blepharophimosis, blepharoptosis, high arched eyebrows. Less common features reported include anterior chamber defects, cardiac anomalies, caudal appendage, umbilical hernia/omphalocele and diastasis recti. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3415631001000118 3MC-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5895641000241115 syndrome 3MC (Malpuech Michels Mingarelli Carnevale) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5895651000241117 syndrome cranio-facio-cubito-rénal fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5895661000241119 syndrome Malpuech-Michels-Mingarelli-Carnevale fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5895641000241115 syndrome 3MC (Malpuech Michels Mingarelli Carnevale) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5895651000241117 syndrome cranio-facio-cubito-rénal fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5895661000241119 syndrome Malpuech-Michels-Mingarelli-Carnevale fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3415631001000118 3MC-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
A rare multiple congenital anomalies syndrome characterized by a spectrum of developmental anomalies including cleft lip and/or palate, craniosynostosis, intellectual disability and/or learning disability, radioulnar synostosis, genital and vesicorenal anomalies. Observed facial dysmorphism includes hypertelorism, blepharophimosis, blepharoptosis, high arched eyebrows. Less common features reported include anterior chamber defects, cardiac anomalies, caudal appendage, umbilical hernia/omphalocele and diastasis recti. Is a Multiple system malformation syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
A rare multiple congenital anomalies syndrome characterized by a spectrum of developmental anomalies including cleft lip and/or palate, craniosynostosis, intellectual disability and/or learning disability, radioulnar synostosis, genital and vesicorenal anomalies. Observed facial dysmorphism includes hypertelorism, blepharophimosis, blepharoptosis, high arched eyebrows. Less common features reported include anterior chamber defects, cardiac anomalies, caudal appendage, umbilical hernia/omphalocele and diastasis recti. Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
A rare multiple congenital anomalies syndrome characterized by a spectrum of developmental anomalies including cleft lip and/or palate, craniosynostosis, intellectual disability and/or learning disability, radioulnar synostosis, genital and vesicorenal anomalies. Observed facial dysmorphism includes hypertelorism, blepharophimosis, blepharoptosis, high arched eyebrows. Less common features reported include anterior chamber defects, cardiac anomalies, caudal appendage, umbilical hernia/omphalocele and diastasis recti. Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 1
A rare multiple congenital anomalies syndrome characterized by a spectrum of developmental anomalies including cleft lip and/or palate, craniosynostosis, intellectual disability and/or learning disability, radioulnar synostosis, genital and vesicorenal anomalies. Observed facial dysmorphism includes hypertelorism, blepharophimosis, blepharoptosis, high arched eyebrows. Less common features reported include anterior chamber defects, cardiac anomalies, caudal appendage, umbilical hernia/omphalocele and diastasis recti. Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
A rare multiple congenital anomalies syndrome characterized by a spectrum of developmental anomalies including cleft lip and/or palate, craniosynostosis, intellectual disability and/or learning disability, radioulnar synostosis, genital and vesicorenal anomalies. Observed facial dysmorphism includes hypertelorism, blepharophimosis, blepharoptosis, high arched eyebrows. Less common features reported include anterior chamber defects, cardiac anomalies, caudal appendage, umbilical hernia/omphalocele and diastasis recti. Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
A rare multiple congenital anomalies syndrome characterized by a spectrum of developmental anomalies including cleft lip and/or palate, craniosynostosis, intellectual disability and/or learning disability, radioulnar synostosis, genital and vesicorenal anomalies. Observed facial dysmorphism includes hypertelorism, blepharophimosis, blepharoptosis, high arched eyebrows. Less common features reported include anterior chamber defects, cardiac anomalies, caudal appendage, umbilical hernia/omphalocele and diastasis recti. Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
A rare multiple congenital anomalies syndrome characterized by a spectrum of developmental anomalies including cleft lip and/or palate, craniosynostosis, intellectual disability and/or learning disability, radioulnar synostosis, genital and vesicorenal anomalies. Observed facial dysmorphism includes hypertelorism, blepharophimosis, blepharoptosis, high arched eyebrows. Less common features reported include anterior chamber defects, cardiac anomalies, caudal appendage, umbilical hernia/omphalocele and diastasis recti. Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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