723453002: Pterygia, heart anomaly, autosomal recessive inheritance, vertebral defect, ear anomaly, radial defect syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\PHAVER syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\PHAVER syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\PHAVER syndrome
• \Disease\Disorder of extremity\Congenital anomaly of limb\PHAVER syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\PHAVER syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\PHAVER syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\PHAVER syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\PHAVER syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\PHAVER syndrome

Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3424682016	Pterygia, heart anomaly, autosomal recessive inheritance, vertebral defect, ear anomaly, radial defect syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3424683014	Pterygia, heart anomaly, autosomal recessive inheritance, vertebral defect, ear anomaly, radial defect syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3424684015	PHAVER syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3424685019	PHAVER (pterygia, heart anomaly, autosomal recessive inheritance, vertebral defect, ear anomaly, radial defect) syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3424686018	Powell Chandra Saal syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3424687010	A very rare syndrome with the association of limb pterygia, heart anomalies, autosomal recessive inheritance, vertebral defects, ear anomalies and radial defects. It has been described in two siblings. One of the siblings also had a myelomeningocele. The reported cases suggest the condition is hereditary with probable autosomal recessive inheritance.	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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