720756005: Craniofacial ulnar renal syndrome (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\...
• \Developmental hereditary disorder\3MC syndrome
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\3MC syndrome
• \Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\3MC syndrome
• \Developmental disorder\Developmental hereditary disorder\3MC syndrome
• \Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\3MC syndrome

Status: current, Primitive. 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	Case insensitive	SNOMED CT core
3322018014	Craniofacial ulnar renal syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3322019018	3MC syndrome	en	Synonym	Active	Initial character case insensitive	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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

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